A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10685956



Internal ID5577928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:137446189..137469674hg38UCSC Ensembl
chr2:138203759..138227244hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3823486
hg1923486
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592624
Supporting Variants
SamplesNA19023
Known GenesTHSD7B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10685956
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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