A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024612



Internal ID10340662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41510342..41532347hg38UCSC Ensembl
Innerchr17:39666594..39688599hg19UCSC Ensembl
Innerchr17:36920120..36942125hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3822006
hg1922006
hg1822006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760463
Supporting Variants
SamplesRW_0224
Known GenesKRT15, KRT19, MIR6510
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)essv7024612
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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