A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762488



Internal ID10375286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36781105..36789397hg38UCSC Ensembl
Innerchr17:35138283..35146671hg19UCSC Ensembl
Innerchr17:32212396..32220784hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg388293
hg198389
hg188389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv58e203
Supporting Variantsessv7002063, essv7002060, essv7002061, essv7002062
SamplesSW_0773, SW_1263, SW_0648, SW_0338
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)esv2762488
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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