A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746053



Internal ID10327023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30593744..30594541hg38UCSC Ensembl
Outerchr1:31066591..31067388hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38798
hg19798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941801, essv6972379, essv6748575, essv6789170
SamplesSSM008, SSM023, SSM029, SSM070
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)esv2746053
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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