A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764255



Internal ID10031605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61973559..61984863hg38UCSC Ensembl
Innerchr1:62439231..62450535hg19UCSC Ensembl
Innerchr1:62211819..62223123hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3811305
hg1911305
hg1811305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005393, essv7005394
SamplesRW_0546, RW_0061
Known GenesINADL
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)esv2764255
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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