A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008855



Internal ID10017112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25256138..25320495hg38UCSC Ensembl
Innerchr1:25582629..25646986hg19UCSC Ensembl
Innerchr1:25455216..25519573hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3864358
hg1964358
hg1864358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762632
Supporting Variants
SamplesSW_1085
Known GenesRHD
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)essv7008855
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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