A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6718854



Internal ID9997044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13521972..13522263hg38UCSC Ensembl
Outerchr1:13848467..13848758hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744008
Supporting Variants
SamplesSSM007
Known Genes
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)essv6718854
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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