A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6725883



Internal ID9790091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:59296496..59296894hg38UCSC Ensembl
Outerchr1:59762168..59762566hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748874
Supporting Variants
SamplesSSM046
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)essv6725883
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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