A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6817464



Internal ID10006747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119538448..119601287hg38UCSC Ensembl
Outerchr1:120081071..120143910hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3862840
hg1962840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716795
Supporting Variants
SamplesSSM010
Known GenesHSD3BP4, LINC00622
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)essv6817464
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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