A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011393



Internal ID10349523
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 StatusS
Merged Variantsesv2760913
Supporting Variants
SamplesRW_0616
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)essv7011393
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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