A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724057



Internal ID9958358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23601991..23602384hg38UCSC Ensembl
Outerchr22:23944178..23944571hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961165, essv6753373, essv6714037, essv6773229, essv6766414, essv6835970, essv6842509, essv6941536, essv6721796, essv6692562, essv6717953, essv6666618
SamplesSSM036, SSM065, SSM042, SSM057, SSM029, SSM026, SSM044, SSM082, SSM022, SSM010, SSM043, SSM063
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)esv2724057
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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