A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12408967



Internal ID2141421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:69417266..69526815hg38UCSC Ensembl
chr6:70127158..70236707hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38109550
hg19109550
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609408
Supporting Variants
SamplesHG01941
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12408967
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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