A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6797448



Internal ID10202600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:15456494..15475907hg38UCSC Ensembl
Outerchr1:15782989..15802402hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3819414
hg1919414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744308
Supporting Variants
SamplesSSM072
Known GenesCELA2A
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)essv6797448
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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