A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747330



Internal ID9981614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:40086621..40087965hg38UCSC Ensembl
Outerchr1:40552293..40553637hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381345
hg191345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933334, essv6950592
SamplesSSM021, SSM025
Known GenesPPT1
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)esv2747330
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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