A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716218



Internal ID9950506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111414569..111415259hg38UCSC Ensembl
Outerchr1:111957191..111957881hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38691
hg19691
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6785410, essv6738891, essv6780964, essv6829086, essv6840048, essv6769607, essv6892400, essv6753574, essv6801683, essv6689328, essv6968017, essv6950884, essv6777011, essv6950641, essv6961696, essv6933387, essv6789238, essv6921815, essv6747856, essv6793382
SamplesSSM065, SSM027, SSM036, SSM084, SSM025, SSM071, SSM067, SSM056, SSM009, SSM028, SSM073, SSM021, SSM052, SSM068, SSM004, SSM098, SSM018, SSM058, SSM081, SSM070
Known GenesOVGP1
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)esv2716218
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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