A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732692



Internal ID3283188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:128903135..128903751hg38UCSC Ensembl
Outerchr6:129224280..129224896hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38617
hg19617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6869837, essv6694247, essv6697990
SamplesSSM090, SSM037, SSM038
Known GenesLAMA2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
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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