A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732692



Internal ID5043424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:129224280..129224896hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6869837, essv6694247, essv6697990
SamplesSSM090, SSM037, SSM038
Known GenesLAMA2
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2732692
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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