A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730978



Internal ID9965295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:160461257..160461632hg38UCSC Ensembl
Outerchr5:159888264..159888639hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690297
SamplesSSM036
Known Genes
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)esv2730978
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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