A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727860



Internal ID9962172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:79284563..79284893hg38UCSC Ensembl
Outerchr4:80205717..80206047hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6686842, essv6899297, essv6906986, essv6813912, essv6785927, essv6848358, essv6860221, essv6777720, essv6825899, essv6802225, essv6881063, essv6865013, essv6707995
SamplesSSM100, SSM073, SSM088, SSM041, SSM069, SSM089, SSM035, SSM094, SSM067, SSM014, SSM086, SSM080, SSM077
Known GenesLINC01088
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)esv2727860
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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