A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760955



Internal ID10377262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150822643..150898347hg38UCSC Ensembl
Innerchr5:150202205..150277909hg19UCSC Ensembl
Innerchr5:150182398..150258102hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3875705
hg1975705
hg1875705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013194, essv7013197, essv7013200, essv7013164, essv7013193, essv7013196, essv7013180, essv7013175, essv7013184, essv7013165, essv7013182, essv7013183, essv7013192, essv7013199, essv7013179, essv7013173, essv7013177, essv7013166, essv7013186, essv7013191, essv7013195, essv7013171, essv7013169, essv7013162, essv7013161, essv7013187, essv7013181, essv7013185, essv7013198, essv7013188, essv7013174, essv7013168, essv7013163, essv7013172, essv7013176, essv7013170
SamplesRW_0208, RW_0059, RW_0292, RW_0345, RW_0595, RW_0314, RW_0187, RW_0322, RW_0560, RW_0354, RW_0025, RW_0181, RW_0022, RW_0511, RW_0216, RW_0358, RW_0293, RW_0324, RW_0648, RW_0666, RW_0302, RW_0092, RW_0008, RW_0276, RW_0231, RW_0194, RW_0195, RW_0341, RW_0073, RW_0275, RW_0215, RW_0170, RW_0079, RW_0028, RW_0167, RW_0207
Known GenesIRGM, ZNF300
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2760955
Frequency
Sample Size1109
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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