A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7032118



Internal ID10364817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:60688554..61115204hg38UCSC Ensembl
Innerchr6:57656301..58082951hg19UCSC Ensembl
Innerchr6:57764260..58190910hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg38426651
hg19426651
hg18426651
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763977
Supporting Variants
SamplesSW_1115
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)essv7032118
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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