A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760962



Internal ID10377269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:101440495..102149877hg38UCSC Ensembl
Innerchr5:100776199..101485581hg19UCSC Ensembl
Innerchr5:100804098..101513480hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38709383
hg19709383
hg18709383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7012947, essv7012939, essv7012945, essv7012946, essv7012940, essv7012941, essv7012942, essv7012936, essv7012938, essv7012937, essv7012944
SamplesRW_0329, RW_0319, RW_0003, RW_0637, RW_0605, RW_0529, RW_0662, RW_0038, RW_0263, RW_0209, RW_0508
Known Genes
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)esv2760962
Frequency
Sample Size1109
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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