A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5838681



Internal ID9342353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46925484..46931670hg38UCSC Ensembl
Outerchr2:46925447..46931720hg38UCSC Ensembl
Innerchr2:47152623..47158809hg19UCSC Ensembl
Outerchr2:47152586..47158859hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg386274
hg196274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670668
Supporting Variants
SamplesNA18539
Known GenesMCFD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5838681
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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