A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724264



Internal ID10307900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:40398041..40399223hg38UCSC Ensembl
Outerchr22:40794045..40795227hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381183
hg191183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6915607, essv6753392, essv6791487, essv6917242, essv6747663, essv6954491, essv6761749, essv6733317, essv6877549, essv6815610, essv6937458, essv6667910, essv6928900, essv6972070, essv6735894
SamplesSSM009, SSM002, SSM057, SSM028, SSM092, SSM021, SSM047, SSM061, SSM019, SSM001, SSM016, SSM055, SSM025, SSM004, SSM049
Known GenesSGSM3
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)esv2724264
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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