A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12580802



Internal ID5567191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149088158..149089267hg38UCSC Ensembl
Innerchr6:149088208..149089217hg38UCSC Ensembl
Outerchr6:149088089..149089336hg38UCSC Ensembl
chr6:149409294..149410403hg19UCSC Ensembl
Innerchr6:149409344..149410353hg19UCSC Ensembl
Outerchr6:149409225..149410472hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg381110
hg191110
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611203
Supporting Variants
SamplesNA19017
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12580802
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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