A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750422



Internal ID10331392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:4017097..4017635hg38UCSC Ensembl
Outerchr16:4067098..4067636hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6851960, essv6688661, essv6665451, essv6761319, essv6901759, essv6758547, essv6940820, essv6690354, essv6678292, essv6806735
SamplesSSM059, SSM074, SSM061, SSM029, SSM035, SSM032, SSM086, SSM005, SSM022, SSM012
Known GenesADCY9
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)esv2750422
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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