A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718529



Internal ID9952820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:157600658..157601394hg38UCSC Ensembl
Outerchr1:157570448..157571184hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38737
hg19737
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6756640, essv6847200, essv6669134, essv6954927, essv6864100, essv6686239, essv6859326, essv6753603, essv6696521, essv6972559, essv6892424, essv6961734, essv6816726, essv6906212, essv6853415
SamplesSSM059, SSM027, SSM087, SSM088, SSM058, SSM029, SSM026, SSM089, SSM035, SSM031, SSM014, SSM086, SSM006, SSM078, SSM098
Known Genes
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)esv2718529
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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