A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994646



Internal ID10372232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:38444579..38783090hg38UCSC Ensembl
Innerchr10:38733507..39076221hg19UCSC Ensembl
Innerchr10:38773513..39116227hg18UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg38338512
hg19342715
hg18342715
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764202
Supporting Variants
SamplesSW_1436
Known GenesACTR3BP5, LINC00999
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)essv6994646
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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