A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6801623



Internal ID10206488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:21981155..22005796hg38UCSC Ensembl
Outerchr1:22307648..22332289hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3824642
hg1924642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745130
Supporting Variants
SamplesSSM073
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)essv6801623
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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