A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10764822



Internal ID2132295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174903973..174909352hg38UCSC Ensembl
Innerchr2:174903973..174909352hg38UCSC Ensembl
Outerchr2:174903665..174909648hg38UCSC Ensembl
chr2:175768701..175774080hg19UCSC Ensembl
Innerchr2:175768701..175774080hg19UCSC Ensembl
Outerchr2:175768393..175774376hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385380
hg195380
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593415
Supporting Variants
SamplesHG01935
Known GenesCHN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10764822
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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