A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001518



Internal ID10355007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:8684079..8773027hg38UCSC Ensembl
Innerchr17:8587397..8676345hg19UCSC Ensembl
Innerchr17:8528122..8617070hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3888949
hg1988949
hg1888949
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761945
Supporting Variants
SamplesSW_0200
Known GenesCCDC42, SPDYE4
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)essv7001518
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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