A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998761



Internal ID10357747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105612353..105733039hg38UCSC Ensembl
Innerchr14:106078690..106199376hg19UCSC Ensembl
Innerchr14:105149735..105270421hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38120687
hg19120687
hg18120687
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761499
Supporting Variants
SamplesSW_0624
Known GenesELK2AP, MIR8071-1, MIR8071-2
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)essv6998761
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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