A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629249



Internal ID7016071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39084084..39089372hg38UCSC Ensembl
Innerchr12:39084084..39089372hg38UCSC Ensembl
Outerchr12:39083807..39089726hg38UCSC Ensembl
chr12:39477886..39483174hg19UCSC Ensembl
Innerchr12:39477886..39483174hg19UCSC Ensembl
Outerchr12:39477609..39483528hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg385289
hg195289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14450285, essv14450251, essv14450254, essv14450264, essv14450274, essv14450272, essv14450252, essv14450257, essv14450262, essv14450284, essv14450271, essv14450270, essv14450283, essv14450280, essv14450278, essv14450263, essv14450276, essv14450260, essv14450282, essv14450265, essv14450259, essv14450255, essv14450267, essv14450261, essv14450268, essv14450250, essv14450277, essv14450275, essv14450253, essv14450279, essv14450266, essv14450281, essv14450273, essv14450256, essv14450258, essv14450269
SamplesNA12383, HG01521, NA20766, NA20514, HG01326, HG02231, HG00257, NA20752, HG02691, HG02215, NA19669, HG01051, HG01513, HG02299, NA20768, HG04183, HG02493, NA12156, HG01275, NA20587, HG00739, HG00137, HG01360, HG00176, HG00275, HG01323, HG01414, HG01101, HG03752, HG00141, HG00353, HG00136, HG00378, HG00131, HG01914, NA20772
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629249
Frequency
Sample Size2504
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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