A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738802



Internal ID10322438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:95503707..95504077hg38UCSC Ensembl
Outerchr9:98265989..98266359hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38371
hg19371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6894264, essv6684711, essv6787292, essv6870416, essv6687928, essv6900312, essv6795571, essv6890895, essv6701972, essv6779014, essv6709136, essv6897325, essv6862165, essv6830895, essv6958468
SamplesSSM100, SSM071, SSM011, SSM097, SSM039, SSM041, SSM090, SSM069, SSM026, SSM035, SSM067, SSM081, SSM034, SSM099, SSM098
Known GenesPTCH1
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)esv2738802
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer