A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676187



Internal ID9595606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105822290..105824273hg38UCSC Ensembl
chr2:106438746..106440729hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg381984
hg191984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5857936, essv5660253, essv5718309, essv5494053, essv6081656, essv5867137, essv6320752, essv5933892, essv6036750, essv5608965, essv5583801, essv6341118, essv6102002, essv6146112, essv5792229
SamplesNA19312, NA19625, NA19436, NA18501, NA18505, NA19247, NA19238, NA19704, NA19707, NA19131, NA19462, NA19921, NA19160, NA19470, NA19315
Known GenesNCK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676187
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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