A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7019521



Internal ID10017322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25266637..25361785hg38UCSC Ensembl
Innerchr1:25593128..25688276hg19UCSC Ensembl
Innerchr1:25465715..25560863hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3895149
hg1995149
hg1895149
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762632
Supporting Variants
SamplesSW_1092
Known GenesRHD, TMEM50A
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)essv7019521
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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