A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7002062



Internal ID10359428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36781898..36789397hg38UCSC Ensembl
Innerchr17:35139076..35146671hg19UCSC Ensembl
Innerchr17:32213189..32220784hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg387500
hg197596
hg187596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762488
Supporting Variants
SamplesSW_0773
Known Genes
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)essv7002062
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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