A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714551



Internal ID9948835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:89010106..89012914hg38UCSC Ensembl
Outerchr1:89475789..89478597hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg382809
hg192809
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6749154, essv6747840, essv6967999, essv6874765, essv6950773, essv6738872, essv6773505, essv6719353, essv6776995, essv6780951, essv6736033, essv6927928, essv6810396, essv6847126, essv6785063, essv6871768, essv6917501, essv6805820, essv6744996, essv6761894, essv6669766
SamplesSSM007, SSM092, SSM086, SSM055, SSM091, SSM001, SSM067, SSM050, SSM062, SSM005, SSM056, SSM017, SSM066, SSM028, SSM069, SSM002, SSM052, SSM068, SSM004, SSM008, SSM076
Known GenesGBP3
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)esv2714551
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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