A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998613



Internal ID10008572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47757834..47817385hg38UCSC Ensembl
Innerchr14:48227037..48286588hg19UCSC Ensembl
Innerchr14:47296787..47356338hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3859552
hg1959552
hg1859552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761355
Supporting Variants
SamplesSW_0215
Known GenesLINC00648, MIR548Y
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)essv6998613
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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