A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6666973



Internal ID10085412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167913350..167914190hg38UCSC Ensembl
Outerchr1:167882588..167883428hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719217
Supporting Variants
SamplesSSM030
Known GenesADCY10
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)essv6666973
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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