A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6790291



Internal ID9847025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:56835176..56835569hg38UCSC Ensembl
Outerchr5:56131003..56131396hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730199, esv2730198
Supporting Variants
SamplesSSM070
Known GenesMAP3K1
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)essv6790291
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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