A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732097



Internal ID9966415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:53665658..53666325hg38UCSC Ensembl
Outerchr6:53530456..53531123hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38668
hg19668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6754557, essv6855256, essv6963764
SamplesSSM027, SSM087, SSM058
Known GenesKLHL31
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)esv2732097
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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