A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6704802



Internal ID9771117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:56835179..56835575hg38UCSC Ensembl
Outerchr5:56131006..56131402hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730199, esv2730198
Supporting Variants
SamplesSSM040
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)essv6704802
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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