A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6831231



Internal ID10006536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:6276224..6276586hg38UCSC Ensembl
Outerchr9:6276224..6276586hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738166, esv2738165, esv2738168
Supporting Variants
SamplesSSM010
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)essv6831231
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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