A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6923763



Internal ID9987346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:53353677..53353912hg38UCSC Ensembl
Outerchr4:54219844..54220079hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727606
Supporting Variants
SamplesSSM003
Known GenesSCFD2
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)essv6923763
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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