A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12452064



Internal ID4483140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:81676654..81714010hg38UCSC Ensembl
Innerchr6:81676654..81714010hg38UCSC Ensembl
Outerchr6:81676154..81714510hg38UCSC Ensembl
chr6:82386371..82423727hg19UCSC Ensembl
Innerchr6:82386371..82423727hg19UCSC Ensembl
Outerchr6:82385871..82424227hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3837357
hg1937357
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609755
Supporting Variants
SamplesHG03985
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12452064
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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