A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760905



Internal ID10377212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:87849665..87852202hg38UCSC Ensembl
Innerchr4:88770817..88773354hg19UCSC Ensembl
Innerchr4:88989841..88992378hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg382538
hg192538
hg182538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7011400, essv7011401, essv7011397, essv7011398, essv7011395, essv7011396, essv7011394, essv7011402
SamplesRW_0348, RW_0049, RW_0227, RW_0002, RW_0175, RW_0593, RW_0251, RW_0170
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)esv2760905
Frequency
Sample Size1109
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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