A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760913



Internal ID10377220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:87273018..87307260hg38UCSC Ensembl
Innerchr4:88194170..88228412hg19UCSC Ensembl
Innerchr4:88413194..88447436hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3834243
hg1934243
hg1834243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7011387, essv7011392, essv7011389, essv7011390, essv7011393, essv7011386, essv7011391
SamplesRW_0256, RW_0629, RW_0011, RW_0616, RW_0601, RW_0296, RW_0275
Known GenesHSD17B13, MIR5705
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)esv2760913
Frequency
Sample Size1109
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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