A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724883



Internal ID10308519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:231732877..231733992hg38UCSC Ensembl
Outerchr1:231868623..231869738hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381116
hg191116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961844, essv6821364, essv6845554, essv6825175, essv6710758, essv6832752, essv6874856, essv6781069, essv6972683, essv6793498
SamplesSSM071, SSM027, SSM011, SSM079, SSM042, SSM092, SSM029, SSM068, SSM082, SSM080
Known GenesDISC1, TSNAX-DISC1
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)esv2724883
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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