A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12640890



Internal ID2642706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167155684..167512132hg38UCSC Ensembl
Innerchr6:167155834..167511982hg38UCSC Ensembl
Outerchr6:167155534..167512282hg38UCSC Ensembl
chr6:167569172..167924324hg19UCSC Ensembl
Innerchr6:167569322..167924174hg19UCSC Ensembl
Outerchr6:167569022..167924474hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38356449
hg19355153
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611649
Supporting Variants
SamplesHG02054
Known GenesGPR31, TCP10, TCP10L2, TTLL2, UNC93A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12640890
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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