A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718540



Internal ID9952831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:157600829..157600991hg38UCSC Ensembl
Outerchr1:157570619..157570781hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847200, essv6669134, essv6954927, essv6864100, essv6686239, essv6859326, essv6972559, essv6892424, essv6961734, essv6816726, essv6906212, essv6853415
SamplesSSM027, SSM087, SSM088, SSM029, SSM026, SSM089, SSM035, SSM031, SSM014, SSM086, 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)esv2718540
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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