A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6944343



Internal ID9706259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:21211592..21233732hg38UCSC Ensembl
Outerchr9:21211591..21233731hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3822141
hg1922141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738277, esv2738279
Supporting Variants
SamplesSSM023
Known GenesIFNA16, IFNA17
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)essv6944343
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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