A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760572



Internal ID10376879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71119433..71120629hg38UCSC Ensembl
Innerchr2:71346563..71347759hg19UCSC Ensembl
Innerchr2:71200071..71201267hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381197
hg191197
hg181197
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007690, essv7007688, essv7007693, essv7007691, essv7007692
SamplesRW_0329, RW_0024, RW_0311, RW_0253, RW_0155
Known GenesMCEE
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)esv2760572
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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