A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749207



Internal ID10330177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:65301893..65302411hg38UCSC Ensembl
Outerchr1:65767576..65768094hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38519
hg19519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6742183
SamplesSSM053
Known GenesDNAJC6
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)esv2749207
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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