A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612305



Internal ID6999206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:13842170..13846485hg38UCSC Ensembl
Innerchr7:13842201..13846454hg38UCSC Ensembl
Outerchr7:13842139..13846516hg38UCSC Ensembl
chr7:13881795..13886110hg19UCSC Ensembl
Innerchr7:13881826..13886079hg19UCSC Ensembl
Outerchr7:13881764..13886141hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg384316
hg194316
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12685445, essv12685431, essv12685434, essv12685449, essv12685433, essv12685451, essv12685432, essv12685444, essv12685438, essv12685440, essv12685442, essv12685443, essv12685446, essv12685436, essv12685448, essv12685441, essv12685435, essv12685450, essv12685437, essv12685439, essv12685447
SamplesHG03366, HG03517, NA19819, HG02895, HG02840, HG02549, HG02703, NA18868, HG02634, NA19372, HG03048, HG03027, HG02878, HG03085, HG01990, HG02983, HG02837, NA19117, HG02646, HG02851, HG02006
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612305
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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