A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760947



Internal ID10377254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:12800777..13015212hg38UCSC Ensembl
Innerchr5:12800889..13015324hg19UCSC Ensembl
Innerchr5:12853889..13068324hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38214436
hg19214436
hg18214436
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7012559, essv7012549, essv7012562, essv7012561, essv7012560, essv7012563, essv7012551, essv7012568, essv7012565, essv7012564, essv7012567, essv7012553, essv7012550, essv7012548, essv7012557, essv7012558, essv7012554, essv7012552, essv7012556
SamplesRW_0208, RW_0237, RW_0010, RW_0189, RW_0025, RW_0614, RW_0519, RW_0659, RW_0175, RW_0088, RW_0523, RW_0080, RW_0543, RW_0200, RW_0275, RW_0238, RW_0014, RW_0652, RW_0234
Known GenesCT49
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)esv2760947
Frequency
Sample Size1109
Observed Gain1
Observed Loss18
Observed Complex0
Frequencyn/a


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