A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12556469



Internal ID5303923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133194119..133200140hg38UCSC Ensembl
Innerchr6:133194119..133200140hg38UCSC Ensembl
Outerchr6:133193619..133200640hg38UCSC Ensembl
chr6:133515258..133521279hg19UCSC Ensembl
Innerchr6:133515258..133521279hg19UCSC Ensembl
Outerchr6:133514758..133521779hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg386022
hg196022
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610851
Supporting Variants
SamplesNA18853
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12556469
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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