A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10943146



Internal ID944962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:20137510..20139751hg38UCSC Ensembl
Innerchr3:20137535..20139726hg38UCSC Ensembl
Outerchr3:20137485..20139776hg38UCSC Ensembl
chr3:20179002..20181243hg19UCSC Ensembl
Innerchr3:20179027..20181218hg19UCSC Ensembl
Outerchr3:20178977..20181268hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg382242
hg192242
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595471
Supporting Variants
SamplesHG03460
Known GenesKAT2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10943146
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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