A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6735982



Internal ID10145866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:21985667..22008636hg38UCSC Ensembl
Outerchr1:22312160..22335129hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3822970
hg1922970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745130
Supporting Variants
SamplesSSM050
Known GenesCELA3A, CELA3B
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)essv6735982
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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