A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726722



Internal ID3277218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:868977..870065hg38UCSC Ensembl
Outerchr4:862765..863853hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381089
hg191089
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6918164, essv6745466, essv6829638, essv6840663, essv6864839, essv6955965, essv6962693, essv6767049, essv6802140, essv6748301, essv6922830, essv6860067, essv6973691, essv6726534, essv6906850, essv6869246, essv6754055, essv6955964, essv6825756, essv6968711, essv6683430, essv6864840
SamplesSSM027, SSM055, SSM084, SSM088, SSM089, SSM090, SSM064, SSM056, SSM017, SSM028, SSM029, SSM003, SSM073, SSM034, SSM046, SSM026, SSM014, SSM058, SSM081, SSM080
Known GenesGAK
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)esv2726722
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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