A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662840



Internal ID9928945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61892586..61893571hg38UCSC Ensembl
chr2:62119721..62120706hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38986
hg19986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5886404, essv6080901, essv6489133, essv5756420
SamplesNA19393, NA18498, HG01148, NA19213
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662840
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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