A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750679



Internal ID10161580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119529992..119592762hg38UCSC Ensembl
Outerchr1:120072615..120135385hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3862771
hg1962771
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716795
Supporting Variants
SamplesSSM057
Known GenesHSD3BP4
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)essv6750679
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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