A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750676



Internal ID9814897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111544446..111545198hg38UCSC Ensembl
Outerchr1:112087068..112087820hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38753
hg19753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716252
Supporting Variants
SamplesSSM057
Known GenesADORA3
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)essv6750676
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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