A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745075



Internal ID9979359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:21544547..21546988hg38UCSC Ensembl
Outerchr1:21871040..21873481hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg382442
hg192442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6839980
SamplesSSM084
Known GenesALPL
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)esv2745075
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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