A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588132



Internal ID6975556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184992036..185001889hg38UCSC Ensembl
Innerchr1:184992536..185001389hg38UCSC Ensembl
Outerchr1:184991036..185002889hg38UCSC Ensembl
chr1:184961168..184971021hg19UCSC Ensembl
Innerchr1:184961668..184970521hg19UCSC Ensembl
Outerchr1:184960168..184972021hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg389854
hg199854
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10211211, essv10211218, essv10211209, essv10211210, essv10211223, essv10211212, essv10211208, essv10211207, essv10211215, essv10211213, essv10211216, essv10211222, essv10211221, essv10211219, essv10211214, essv10211217, essv10211220
SamplesHG01985, NA19332, NA20274, NA19119, NA20317, HG03868, NA20340, NA20318, HG01882, HG01390, HG02979, NA19625, HG03240, NA19434, HG03157, HG03376, HG02851
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588132
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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