A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6853363



Internal ID9904824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111532070..111532170hg38UCSC Ensembl
Outerchr1:112074692..112074792hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716229, esv2716240
Supporting Variants
SamplesSSM087
Known GenesADORA3
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)essv6853363
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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