A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008521



Internal ID10023803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:914637..1106320hg38UCSC Ensembl
Innerchr1:850017..1041700hg19UCSC Ensembl
Innerchr1:839880..1031563hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38191684
hg19191684
hg18191684
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762302
Supporting Variants
SamplesSW_1358
Known GenesAGRN, C1orf159, C1orf170, HES4, ISG15, KLHL17, LOC100130417, NOC2L, PLEKHN1, RNF223, SAMD11
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)essv7008521
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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