A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11287982



Internal ID1804708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195463761..195477000hg38UCSC Ensembl
Innerchr3:195464260..195477000hg38UCSC Ensembl
Outerchr3:195462761..195478363hg38UCSC Ensembl
chr3:195184478..195198790hg19UCSC Ensembl
Innerchr3:195184978..195198290hg19UCSC Ensembl
Outerchr3:195183478..195199790hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3813240
hg1914313
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599236
Supporting Variants
SamplesHG01680
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11287982
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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