A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656805



Internal ID9922910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85982088..85987362hg38UCSC Ensembl
chr2:86209211..86214485hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg385275
hg195275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5728754, essv6180124, essv5965791, essv6065141, essv5828049, essv5894550, essv5763769, essv6461607, essv5667205
SamplesNA18924, NA20332, NA19315, NA18498, NA19372, NA19707, NA19327, NA19375, NA18522
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656805
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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