A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6669143



Internal ID9645936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:7902962..7903281hg38UCSC Ensembl
Outerchr1:7963022..7963341hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743361
Supporting Variants
SamplesSSM005
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)essv6669143
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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