A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7033235



Internal ID10024633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:157292630..157549910hg38UCSC Ensembl
Innerchr6:157713662..157970942hg19UCSC Ensembl
Innerchr6:157633650..157890930hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38257281
hg19257281
hg18257281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763603
Supporting Variants
SamplesSW_1398
Known GenesMIR3692, TMEM242, ZDHHC14
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)essv7033235
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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