A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11026131



Internal ID539433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:61492594..61507136hg38UCSC Ensembl
Innerchr3:61492597..61507133hg38UCSC Ensembl
Outerchr3:61492591..61507139hg38UCSC Ensembl
chr3:61478268..61492810hg19UCSC Ensembl
Innerchr3:61478271..61492807hg19UCSC Ensembl
Outerchr3:61478265..61492813hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3814543
hg1914543
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596343
Supporting Variants
SamplesHG00235
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11026131
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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