A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609914



Internal ID6996833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:90090596..90091604hg38UCSC Ensembl
Innerchr6:90090596..90091604hg38UCSC Ensembl
Outerchr6:90090379..90091789hg38UCSC Ensembl
chr6:90800315..90801323hg19UCSC Ensembl
Innerchr6:90800315..90801323hg19UCSC Ensembl
Outerchr6:90800098..90801508hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg381009
hg191009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12460039, essv12460040, essv12460041, essv12460038, essv12460042, essv12460043
SamplesNA18988, HG03663, HG02737, NA20867, HG04176, NA21102
Known GenesBACH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609914
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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