A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024041



Internal ID10000651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83652203..83655987hg38UCSC Ensembl
Innerchr16:83685808..83689592hg19UCSC Ensembl
Innerchr16:82243309..82247093hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg383785
hg193785
hg183785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760405
Supporting Variants
SamplesRW_0560
Known GenesCDH13
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)essv7024041
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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