A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12499227



Internal ID5675918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:107259902..107263358hg38UCSC Ensembl
Innerchr6:107259952..107263308hg38UCSC Ensembl
Outerchr6:107259852..107263408hg38UCSC Ensembl
chr6:107581106..107584562hg19UCSC Ensembl
Innerchr6:107581156..107584512hg19UCSC Ensembl
Outerchr6:107581056..107584612hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg383457
hg193457
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610297
Supporting Variants
SamplesNA19079
Known GenesPDSS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12499227
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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