A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671461



Internal ID9937566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:103981010..103985729hg38UCSC Ensembl
chr11:103851738..103856457hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg384720
hg194720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6506335, essv6566256, essv6427837, essv5921771, essv6530225, essv5939304, essv6568675, essv6321568, essv5542316, essv5439122, essv5809940, essv5625031
SamplesNA19704, HG01070, NA19471, NA18908, NA19908, NA19462, NA19449, NA19435, NA19835, NA19468, NA19474, NA18487
Known GenesPDGFD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671461
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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