A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10975143



Internal ID976959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:32495893..32501883hg38UCSC Ensembl
Innerchr3:32495893..32501883hg38UCSC Ensembl
Outerchr3:32495393..32502383hg38UCSC Ensembl
chr3:32537385..32543375hg19UCSC Ensembl
Innerchr3:32537385..32543375hg19UCSC Ensembl
Outerchr3:32536885..32543875hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg385991
hg195991
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595776
Supporting Variants
SamplesHG02508
Known GenesCMTM6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10975143
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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