A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749096



Internal ID9983380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:64238893..64239283hg38UCSC Ensembl
Outerchr1:64704576..64704966hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6766582, essv6847086, essv6917482, essv6950607, essv6669015, essv6877198, essv6738850, essv6699639, essv6874737, essv6972433, essv6967981, essv6729668
SamplesSSM092, SSM086, SSM064, SSM031, SSM039, SSM012, SSM017, SSM028, SSM029, SSM047, SSM052, SSM004
Known GenesUBE2U
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)esv2749096
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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