A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670224



Internal ID9936329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161145214..161145940hg38UCSC Ensembl
chr2:162001725..162002451hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38727
hg19727
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6127493, essv5458936, essv6177356, essv6447826, essv5639144, essv6165440
SamplesNA19379, NA19371, NA19338, NA19439, NA18501, NA19116
Known GenesTANK
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670224
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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