A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12505799



Internal ID459167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112896055..112902299hg38UCSC Ensembl
Innerchr6:112896055..112902299hg38UCSC Ensembl
Outerchr6:112895555..112902799hg38UCSC Ensembl
chr6:113217257..113223501hg19UCSC Ensembl
Innerchr6:113217257..113223501hg19UCSC Ensembl
Outerchr6:113216757..113224001hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg386245
hg196245
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610402
Supporting Variants
SamplesHG00145
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12505799
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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