A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6976318



Internal ID10081784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:113900731..113901064hg38UCSC Ensembl
Outerchr9:116663011..116663344hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738960
Supporting Variants
SamplesSSM029
Known GenesZNF618
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)essv6976318
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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