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dbVar

Database of genomic structural variation

esv3833711

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:11,093

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 199 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):195,411,809-195,424,901

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3833711	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	195,412,809 (-1000, +500)	195,423,901 (-500, +1000)
esv3833711	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	195,133,538 (-1000, +500)	195,144,630 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv18680514	deletion	HG00409	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,535
essv18680515	deletion	HG00629	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,943
essv18680516	deletion	HG01815	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,397
essv18680517	deletion	NA18565	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,272
essv18680518	deletion	NA18567	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,379

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv18680514	Remapped	Perfect	NC_000003.12:g.(19 5411809_195413309) _(195423401_195424 901)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	195,412,809 (-1000, +500)	195,423,901 (-500, +1000)
essv18680515	Remapped	Perfect	NC_000003.12:g.(19 5411809_195413309) _(195423401_195424 901)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	195,412,809 (-1000, +500)	195,423,901 (-500, +1000)
essv18680516	Remapped	Perfect	NC_000003.12:g.(19 5411809_195413309) _(195423401_195424 901)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	195,412,809 (-1000, +500)	195,423,901 (-500, +1000)
essv18680517	Remapped	Perfect	NC_000003.12:g.(19 5411809_195413309) _(195423401_195424 901)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	195,412,809 (-1000, +500)	195,423,901 (-500, +1000)
essv18680518	Remapped	Perfect	NC_000003.12:g.(19 5411809_195413309) _(195423401_195424 901)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	195,412,809 (-1000, +500)	195,423,901 (-500, +1000)
essv18680514	Submitted genomic		NC_000003.11:g.(19 5132538_195134038) _(195144130_195145 630)del	GRCh37 (hg19)		NC_000003.11	Chr3	195,133,538 (-1000, +500)	195,144,630 (-500, +1000)
essv18680515	Submitted genomic		NC_000003.11:g.(19 5132538_195134038) _(195144130_195145 630)del	GRCh37 (hg19)		NC_000003.11	Chr3	195,133,538 (-1000, +500)	195,144,630 (-500, +1000)
essv18680516	Submitted genomic		NC_000003.11:g.(19 5132538_195134038) _(195144130_195145 630)del	GRCh37 (hg19)		NC_000003.11	Chr3	195,133,538 (-1000, +500)	195,144,630 (-500, +1000)
essv18680517	Submitted genomic		NC_000003.11:g.(19 5132538_195134038) _(195144130_195145 630)del	GRCh37 (hg19)		NC_000003.11	Chr3	195,133,538 (-1000, +500)	195,144,630 (-500, +1000)
essv18680518	Submitted genomic		NC_000003.11:g.(19 5132538_195134038) _(195144130_195145 630)del	GRCh37 (hg19)		NC_000003.11	Chr3	195,133,538 (-1000, +500)	195,144,630 (-500, +1000)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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