A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760526



Internal ID10027889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49115521..49170761hg38UCSC Ensembl
Innerchr19:49618778..49674018hg19UCSC Ensembl
Innerchr19:54310590..54365830hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3855241
hg1955241
hg1855241
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025787, essv7025790, essv7025782, essv7025786, essv7025781, essv7025784, essv7025785, essv7025783, essv7025788
SamplesRW_0060, RW_0186, RW_0226, RW_0544, RW_0260, RW_0599, RW_0095, RW_0061, RW_0533
Known GenesC19orf73, HRC, LIN7B, PPFIA3, TRPM4
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)esv2760526
Frequency
Sample Size1109
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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