A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751023



Internal ID12984575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:40592437..40761501hg38UCSC Ensembl
Innerchr11:40613987..40783051hg19UCSC Ensembl
Innerchr11:40570563..40739627hg18UCSC Ensembl
Innerchr11:40570563..40739627hg17UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38169065
hg19169065
hg18169065
hg17169065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981052, essv6989218, essv6981051, essv6987901
SamplesBEC_345
Known GenesLRRC4C
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751023
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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