A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761124



Internal ID10028486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76443274..76977978hg38UCSC Ensembl
Innerchr7:76072591..76607295hg19UCSC Ensembl
Innerchr7:75910527..76445231hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38534705
hg19534705
hg18534705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014813, essv7014796, essv7014807, essv7014815, essv7014809, essv7014791, essv7014788, essv7014790, essv7014819, essv7014805, essv7014806, essv7014808, essv7014798, essv7014787, essv7014804, essv7014810, essv7014816, essv7014801, essv7014817, essv7014799, essv7014814, essv7014794, essv7014812, essv7014818, essv7014792, essv7014795, essv7014786, essv7014803, essv7014793, essv7014797, essv7014802
SamplesRW_0669, RW_0629, RW_0179, RW_0218, RW_0024, RW_0208, RW_0611, RW_0604, RW_0344, RW_0544, RW_0087, RW_0088, RW_0142, RW_0523, RW_0212, RW_0361, RW_0575, RW_0564, RW_0241, RW_0324, RW_0279, RW_0149, RW_0353, RW_0077, RW_0636, RW_0137, RW_0075, RW_0254, RW_0190
Known GenesDTX2, FDPSP2, LOC100133091, POMZP3, UPK3B
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)esv2761124
Frequency
Sample Size1109
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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