A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763856



Internal ID10031206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143834429..144129470hg38UCSC Ensembl
Innerchr4:144755582..145050623hg19UCSC Ensembl
Innerchr4:144975032..145270073hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38295042
hg19295042
hg18295042
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127e203
Supporting Variantsessv7030169, essv7030167, essv7030161, essv7030171, essv7030172, essv7030162, essv7030170, essv7030166, essv7030163, essv7030173, essv7030165, essv7030174, essv7030164
SamplesSW_1202, SW_1092, SW_0875, SW_1252, SW_0015, SW_0507, SW_1040, SW_1357, SW_0887, SW_0006, SW_1068, SW_1292, SW_1463
Known GenesGYPA, GYPB, GYPE
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)esv2763856
Frequency
Sample Size1109
Observed Gain5
Observed Loss8
Observed Complex0
Frequencyn/a


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