A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998676



Internal ID10015335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73554275..73589827hg38UCSC Ensembl
Innerchr14:74020979..74056531hg19UCSC Ensembl
Innerchr14:73090732..73126284hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3835553
hg1935553
hg1835553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761566
Supporting Variants
SamplesSW_1021
Known GenesACOT2, HEATR4
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)essv6998676
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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