A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12320686



Internal ID2322502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36948858..36950623hg38UCSC Ensembl
Innerchr6:36948908..36950573hg38UCSC Ensembl
Outerchr6:36948808..36950673hg38UCSC Ensembl
chr6:36916634..36918399hg19UCSC Ensembl
Innerchr6:36916684..36918349hg19UCSC Ensembl
Outerchr6:36916584..36918449hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg381766
hg191766
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608714
Supporting Variants
SamplesNA18979
Known GenesPI16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12320686
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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