A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721070



Internal ID9955366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:165483646..165485198hg38UCSC Ensembl
Outerchr2:166340156..166341708hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381553
hg191553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721955, essv6750915, essv6950976, essv6748100, essv6920374, essv6683178, essv6829372, essv6669645, essv6807701, essv6880265, essv6781325, essv6742460, essv6785441, essv6817070, essv6733763, essv6917864, essv6801925, essv6672232, essv6714648, essv6953540, essv6667106, essv6929525, essv6886284, essv6707631, essv6906536, essv6869034, essv6859679, essv6810629, essv6745243, essv6914335, essv6844224, essv6736297, essv6962216, essv6898937, essv6710987, essv6700067
SamplesSSM100, SSM027, SSM075, SSM039, SSM073, SSM050, SSM042, SSM088, SSM041, SSM057, SSM090, SSM069, SSM096, SSM017, SSM003, SSM031, SSM014, SSM085, SSM068, SSM081, SSM020, SSM007, SSM078, SSM016, SSM053, SSM005, SSM076, SSM055, SSM025, SSM034, SSM004, SSM043, SSM049, SSM056, SSM030, SSM012
Known GenesCSRNP3
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)esv2721070
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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