A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746219



Internal ID10327189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30776267..30776479hg38UCSC Ensembl
Outerchr1:31249114..31249326hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6797467, essv6885993, essv6950374, essv6686163, essv6821196, essv6773454, essv6675215, essv6954770, essv6916885
SamplesSSM079, SSM096, SSM026, SSM035, SSM032, SSM003, SSM066, SSM072, SSM004
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)esv2746219
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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