A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764044



Internal ID10031394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:38233729..38301466hg38UCSC Ensembl
Innerchr7:38273330..38341067hg19UCSC Ensembl
Innerchr7:38239855..38307592hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3867738
hg1967738
hg1867738
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990788, essv6990794, essv6990795, essv6990789, essv6990793, essv6990791, essv6990792
SamplesSW_1021, SW_1396, SW_1409, SW_1132, SW_0888, SW_1116, SW_0836
Known GenesTARP
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)esv2764044
Frequency
Sample Size1109
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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