A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720532



Internal ID10304168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:112346802..112347386hg38UCSC Ensembl
Outerchr2:113104379..113104963hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6972999, essv6883513, essv6721499, essv6807648, essv6669545, essv6871994, essv6962115, essv6751820, essv6953139, essv6950923
SamplesSSM008, SSM027, SSM075, SSM029, SSM031, SSM007, SSM091, SSM095, SSM025, 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)esv2720532
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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