A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677617



Internal ID9943722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46911687..46913598hg38UCSC Ensembl
Outerchr2:46911650..46913648hg38UCSC Ensembl
Innerchr2:47138826..47140737hg19UCSC Ensembl
Outerchr2:47138789..47140787hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381999
hg191999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5595987
SamplesNA19648
Known GenesMCFD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677617
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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