A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024544



Internal ID9985516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41354660..41366243hg38UCSC Ensembl
Innerchr17:39510912..39522495hg19UCSC Ensembl
Innerchr17:36764438..36776021hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3811584
hg1911584
hg1811584
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760456
Supporting Variants
SamplesRW_0017
Known GenesKRT33B
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)essv7024544
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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