A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761244



Internal ID10028606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19389134..20043200hg38UCSC Ensembl
Innerchr13:19963274..20617340hg19UCSC Ensembl
Innerchr13:18861274..19515340hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38654067
hg19654067
hg18654067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997740, essv6997739
SamplesSW_1147, SW_1431
Known GenesMPHOSPH8, PSPC1, TPTE2, ZMYM2, ZMYM5
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)esv2761244
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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