A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995146



Internal ID10364622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:87136681..87212076hg38UCSC Ensembl
Innerchr10:88896438..88971833hg19UCSC Ensembl
Innerchr10:88886418..88961813hg18UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg3875396
hg1975396
hg1875396
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764246
Supporting Variants
SamplesSW_1111
Known GenesFAM35A
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)essv6995146
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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