A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727107



Internal ID9961415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8234019..8234176hg38UCSC Ensembl
Outerchr4:8235746..8235903hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv816e201
Supporting Variantsessv6864874, essv6794082, essv6956031, essv6836886
SamplesSSM083, SSM071, SSM026, SSM089
Known GenesSH3TC1
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)esv2727107
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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