A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6714320



Internal ID10126369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110569559..110569952hg38UCSC Ensembl
Outerchr1:111112181..111112574hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716062, esv2716051
Supporting Variants
SamplesSSM043
Known Genes
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)essv6714320
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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