A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750646



Internal ID10159005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:70646427..70647056hg38UCSC Ensembl
Outerchr1:71112110..71112739hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38630
hg19630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749630
Supporting Variants
SamplesSSM057
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)essv6750646
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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