A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6821933



Internal ID10007302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7676661..7677628hg38UCSC Ensembl
Outerchr4:7678388..7679355hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38968
hg19968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727063
Supporting Variants
SamplesSSM010
Known GenesSORCS2
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)essv6821933
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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