A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738908



Internal ID9973249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:108900705..108900879hg38UCSC Ensembl
Outerchr9:111662985..111663159hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6709149, essv6900322
SamplesSSM041, SSM100
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)esv2738908
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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