A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629376



Internal ID7016198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44879392..44889747hg38UCSC Ensembl
Innerchr12:44879392..44889747hg38UCSC Ensembl
Outerchr12:44879189..44890095hg38UCSC Ensembl
chr12:45273175..45283530hg19UCSC Ensembl
Innerchr12:45273175..45283530hg19UCSC Ensembl
Outerchr12:45272972..45283878hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3810356
hg1910356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14467415, essv14467406, essv14467396, essv14467414, essv14467416, essv14467398, essv14467411, essv14467401, essv14467403, essv14467408, essv14467400, essv14467395, essv14467397, essv14467405, essv14467413, essv14467409, essv14467407, essv14467410, essv14467412, essv14467402, essv14467404, essv14467399
SamplesNA19466, HG03052, HG02973, NA20321, HG03455, NA19171, NA20320, HG01167, HG03485, NA19457, NA19904, NA19159, HG03267, HG03058, HG03055, NA20126, HG03117, NA19380, HG02274, NA19376, HG02646, NA19346
Known GenesNELL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629376
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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