A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6866592



Internal ID9916728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:108900867..108901013hg38UCSC Ensembl
Outerchr9:111663147..111663293hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738904, esv2738907, esv2738909
Supporting Variants
SamplesSSM089
Known GenesIKBKAP
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)essv6866592
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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