A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12499103



Internal ID4117065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:107207864..107209752hg38UCSC Ensembl
Innerchr6:107207877..107209739hg38UCSC Ensembl
Outerchr6:107207851..107209765hg38UCSC Ensembl
chr6:107529068..107530956hg19UCSC Ensembl
Innerchr6:107529081..107530943hg19UCSC Ensembl
Outerchr6:107529055..107530969hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381889
hg191889
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610293
Supporting Variants
SamplesHG03736
Known GenesPDSS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12499103
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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