A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10447730



Internal ID449546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32647800..32649421hg38UCSC Ensembl
Innerchr2:32647803..32649418hg38UCSC Ensembl
Outerchr2:32647797..32649424hg38UCSC Ensembl
chr2:32872867..32874488hg19UCSC Ensembl
Innerchr2:32872870..32874485hg19UCSC Ensembl
Outerchr2:32872864..32874491hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381622
hg191622
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590257
Supporting Variants
SamplesHG03945
Known GenesTTC27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10447730
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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