A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663260



Internal ID9929365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4997281..4999500hg38UCSC Ensembl
chr2:5137414..5139633hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg382220
hg192220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6335959, essv5917407, essv6201137, essv5739847, essv5779675, essv6392671, essv5527860, essv6488818, essv5606838, essv6101969, essv5635815, essv6594149, essv5643234
SamplesNA19466, NA18508, NA18519, NA19457, NA19137, NA19901, NA18520, NA19391, NA19469, NA18858, NA19390, NA19376, NA19116
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663260
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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