A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730209



Internal ID10313845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:57598701..57599149hg38UCSC Ensembl
Outerchr5:56894528..56894976hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6822241
SamplesSSM079
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)esv2730209
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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