A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12499620



Internal ID4152391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108466433..108471496hg38UCSC Ensembl
Innerchr6:108466449..108471480hg38UCSC Ensembl
Outerchr6:108466417..108471512hg38UCSC Ensembl
chr6:108787636..108792699hg19UCSC Ensembl
Innerchr6:108787652..108792683hg19UCSC Ensembl
Outerchr6:108787620..108792715hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg385064
hg195064
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610321
Supporting Variants
SamplesHG03756
Known GenesLACE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12499620
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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