A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6814487



Internal ID9638006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:245614659..245615340hg38UCSC Ensembl
Outerchr1:245777961..245778642hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38682
hg19682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726873
Supporting Variants
SamplesSSM002
Known GenesKIF26B
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)essv6814487
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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