A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745719



Internal ID10326689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:27032764..27032984hg38UCSC Ensembl
Outerchr1:27359255..27359475hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6769535, essv6902553
SamplesSSM065, SSM013
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)esv2745719
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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