A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6725919



Internal ID9790124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91169310..91169463hg38UCSC Ensembl
Outerchr1:91634867..91635020hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714729, esv2714684
Supporting Variants
SamplesSSM046
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)essv6725919
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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