A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12460043



Internal ID6883697
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609914
Supporting Variants
SamplesNA21102
Known GenesBACH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12460043
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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