A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726967



Internal ID9961275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:4396249..4397082hg38UCSC Ensembl
Outerchr4:4397976..4398809hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38834
hg19834
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6903193, essv6929860, essv6914591, essv6755187, essv6840690, essv6785795, essv6813811, essv6697515
SamplesSSM013, SSM084, SSM020, SSM016, SSM077, SSM069, SSM038, SSM008
Known GenesNSG1
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)esv2726967
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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