A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12499515



Internal ID6550601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108096425..108098546hg38UCSC Ensembl
Innerchr6:108096484..108098488hg38UCSC Ensembl
Outerchr6:108096367..108098605hg38UCSC Ensembl
chr6:108417629..108419750hg19UCSC Ensembl
Innerchr6:108417688..108419692hg19UCSC Ensembl
Outerchr6:108417571..108419809hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg382122
hg192122
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610312
Supporting Variants
SamplesNA20752
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12499515
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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