A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738907



Internal ID9973248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:108900650..108901100hg38UCSC Ensembl
Outerchr9:111662930..111663380hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6811913, essv6894274, essv6709149, essv6887673, essv6819172, essv6882018, essv6900322, essv6866592, essv6879200
SamplesSSM100, SSM093, SSM041, SSM096, SSM089, SSM094, SSM078, SSM076, SSM098
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)esv2738907
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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