A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630078



Internal ID7016898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79491499..79493961hg38UCSC Ensembl
Innerchr12:79491541..79493920hg38UCSC Ensembl
Outerchr12:79491458..79494003hg38UCSC Ensembl
chr12:79885279..79887741hg19UCSC Ensembl
Innerchr12:79885321..79887700hg19UCSC Ensembl
Outerchr12:79885238..79887783hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg382463
hg192463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14546397, essv14546410, essv14546406, essv14546401, essv14546393, essv14546408, essv14546396, essv14546395, essv14546399, essv14546403, essv14546400, essv14546407, essv14546405, essv14546402, essv14546394, essv14546398, essv14546391, essv14546409, essv14546392, essv14546404
SamplesNA19041, HG01067, HG01072, NA19026, HG02479, NA19437, NA19984, NA19043, HG02322, NA19449, HG03046, HG03240, NA19256, NA19473, NA19037, HG03469, HG01205, NA19360, HG03097, HG02808
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630078
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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