A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744751



Internal ID9979035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:71538269..71538739hg38UCSC Ensembl
Outerchr11:71249315..71249785hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6809284, essv6746760, essv6691509
SamplesSSM036, SSM075, SSM055
Known GenesKRTAP5-8
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)esv2744751
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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