A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724358



Internal ID10307994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44652150..44653722hg38UCSC Ensembl
Outerchr22:45048030..45049602hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381573
hg191573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6710440, essv6686017, essv6835995, essv6948773, essv6668812, essv6717990, essv6967655
SamplesSSM027, SSM041, SSM003, SSM082, SSM034, SSM043, SSM030
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)esv2724358
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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