A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727630



Internal ID10311266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:55156754..55157276hg38UCSC Ensembl
Outerchr4:56022921..56023443hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848303, essv6755798, essv6679951, essv6934166, essv6962867, essv6922590, essv6689990, essv6774188, essv6973852, essv6770323, essv6794152, essv6968825
SamplesSSM036, SSM008, SSM071, SSM027, SSM065, SSM028, SSM021, SSM018, SSM029, SSM086, SSM033, SSM066
Known Genes
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)esv2727630
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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