A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6955963



Internal ID9643437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2511285..2511592hg38UCSC Ensembl
Outerchr4:2513012..2513319hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726853, esv2726835
Supporting Variants
SamplesSSM004
Known GenesRNF4
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)essv6955963
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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