A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5595987



Internal ID9726606
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 Flag1
Merged StatusS
Merged Variantsesv2677617
Supporting Variants
SamplesNA19648
Known GenesMCFD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5595987
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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