A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761155



Internal ID10377462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:23978359..24001198hg38UCSC Ensembl
Innerchr7:24017978..24040817hg19UCSC Ensembl
Innerchr7:23984503..24007342hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3822840
hg1922840
hg1822840
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014540, essv7014539, essv7014541
SamplesRW_0180, RW_0593, RW_0266
Known Genes
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)esv2761155
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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