A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739366



Internal ID3289862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136535400..136536107hg38UCSC Ensembl
Outerchr9:139429852..139430559hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6900348, essv6958581, essv6691269, essv6850559, essv6731725
SamplesSSM086, SSM036, SSM100, SSM047, SSM026
Known GenesNOTCH1
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)esv2739366
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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