A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761144



Internal ID10028506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7457249..8757480hg38UCSC Ensembl
Innerchr7:7496880..8797110hg19UCSC Ensembl
Innerchr7:7463405..8763635hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381300232
hg191300231
hg181300231
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014459, essv7014458, essv7014460, essv7014461, essv7014462
SamplesRW_0592, RW_0230, RW_0336, RW_0659, RW_0652
Known GenesCOL28A1, GLCCI1, ICA1, MIOS, NXPH1, RPA3, RPA3-AS1
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)esv2761144
Frequency
Sample Size1109
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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