A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34550



Internal ID12643901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:130263320..130340106hg38UCSC Ensembl
Innerchr11:130133215..130210001hg19UCSC Ensembl
Innerchr11:129638425..129715211hg18UCSC Ensembl
Innerchr11:129638425..129715211hg17UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3876787
hg1976787
hg1876787
hg1776787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980097, essv6988311
SamplesNA18952
Known GenesZBTB44
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34550
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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