A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745463



Internal ID9979747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:24211980..24212094hg38UCSC Ensembl
Outerchr1:24538470..24538584hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668970, essv6954760
SamplesSSM026, SSM031
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)esv2745463
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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