A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730977



Internal ID10314613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:160357801..160357928hg38UCSC Ensembl
Outerchr5:159784808..159784935hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6943210
SamplesSSM023
Known GenesC1QTNF2
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)esv2730977
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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