A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746031



Internal ID10327001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30515466..30515951hg38UCSC Ensembl
Outerchr1:30988313..30988798hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38486
hg19486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6773451
SamplesSSM066
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)esv2746031
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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