A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6707257



Internal ID10120640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10274553..10274945hg38UCSC Ensembl
Outerchr1:10334611..10335003hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743641, esv2743652
Supporting Variants
SamplesSSM041
Known GenesKIF1B
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)essv6707257
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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