A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024850



Internal ID10002968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82277019..82415624hg38UCSC Ensembl
Innerchr17:80234895..80373500hg19UCSC Ensembl
Innerchr17:77828184..77966789hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38138606
hg19138606
hg18138606
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760445
Supporting Variants
SamplesRW_0619
Known GenesCD7, OGFOD3, SECTM1, TEX19, UTS2R
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)essv7024850
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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