A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610761



Internal ID6650987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129252719..129514149hg38UCSC Ensembl
chr6:129573864..129835294hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38261431
hg19261431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12542612, essv12542613
SamplesHG02250, HG01796
Known GenesLAMA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610761
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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