A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004959



Internal ID10001108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10323676..10534129hg38UCSC Ensembl
Innerchr1:10383734..10594186hg19UCSC Ensembl
Innerchr1:10306321..10516773hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38210454
hg19210453
hg18210453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764192
Supporting Variants
SamplesRW_0575
Known GenesAPITD1, APITD1-CORT, CORT, DFFA, KIF1B, PEX14, PGD
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)essv7004959
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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