A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12542613



Internal ID2544429
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610761
Supporting Variants
SamplesHG02250
Known GenesLAMA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12542613
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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