A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12509362



Internal ID5767862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:115382788..115397195hg38UCSC Ensembl
Innerchr6:115382789..115397194hg38UCSC Ensembl
Outerchr6:115382787..115397196hg38UCSC Ensembl
chr6:115703952..115718359hg19UCSC Ensembl
Innerchr6:115703953..115718358hg19UCSC Ensembl
Outerchr6:115703951..115718360hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg3814408
hg1914408
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610453
Supporting Variants
SamplesNA19138
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12509362
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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