A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763875



Internal ID10377911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100245407..100507719hg38UCSC Ensembl
Innerchr5:99581111..99843423hg19UCSC Ensembl
Innerchr5:99609010..99871322hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38262313
hg19262313
hg18262313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031310, essv7031311, essv7031314, essv7031312
SamplesSW_1283, SW_1098, SW_0071, SW_0143
Known GenesLOC100133050
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)esv2763875
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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