A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732274



Internal ID9966593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:71910477..71910917hg38UCSC Ensembl
Outerchr6:72620180..72620620hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38441
hg19441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6969421, essv6679110, essv6907615
SamplesSSM028, SSM014, SSM005
Known GenesRIMS1
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)esv2732274
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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