A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10763856



Internal ID5921028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174642605..174643669hg38UCSC Ensembl
Innerchr2:174642606..174643668hg38UCSC Ensembl
Outerchr2:174642604..174643670hg38UCSC Ensembl
chr2:175507333..175508397hg19UCSC Ensembl
Innerchr2:175507334..175508396hg19UCSC Ensembl
Outerchr2:175507332..175508398hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381065
hg191065
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593411
Supporting Variants
SamplesNA19331
Known GenesWIPF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10763856
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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