A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657072



Internal ID9923177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:183067201..183067352hg38UCSC Ensembl
Outerchr2:183067164..183067402hg38UCSC Ensembl
Innerchr2:183931929..183932080hg19UCSC Ensembl
Outerchr2:183931892..183932130hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5729705, essv6472357, essv6182661, essv5901127
SamplesHG00315, HG00619, NA18573, HG00607
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657072
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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