A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673317



Internal ID9939422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:23728293..23733253hg38UCSC Ensembl
chr11:23749839..23754799hg19UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg384961
hg194961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5861858, essv5791420, essv6376281, essv6341540, essv6400761, essv6319005, essv6436246, essv6377431, essv6067852, essv6382581, essv6271624, essv5530937, essv6347408, essv6521980, essv6022541
SamplesHG01060, NA19701, NA19704, NA18489, NA19384, NA19720, NA19383, NA19239, NA19456, NA19437, NA18910, NA19625, NA19473, NA19240, NA19360
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673317
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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