A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12310218



Internal ID5094297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:33608385..33612177hg38UCSC Ensembl
Innerchr6:33608385..33612177hg38UCSC Ensembl
Outerchr6:33608086..33612476hg38UCSC Ensembl
chr6:33576162..33579954hg19UCSC Ensembl
Innerchr6:33576162..33579954hg19UCSC Ensembl
Outerchr6:33575863..33580253hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg383793
hg193793
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608637
Supporting Variants
SamplesNA18549
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12310218
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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