A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995206



Internal ID10019598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:100249953..100290757hg38UCSC Ensembl
Innerchr10:102009710..102050514hg19UCSC Ensembl
Innerchr10:101999700..102040504hg18UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg3840805
hg1940805
hg1840805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761622
Supporting Variants
SamplesSW_1174
Known GenesBLOC1S2, CWF19L1, PKD2L1
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)essv6995206
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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