A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7030170



Internal ID10005089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143999622..144126461hg38UCSC Ensembl
Innerchr4:144920775..145047614hg19UCSC Ensembl
Innerchr4:145140225..145267064hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38126840
hg19126840
hg18126840
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763856
Supporting Variants
SamplesSW_0015
Known GenesGYPA, GYPB
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)essv7030170
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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