A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763977



Internal ID10378013
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7032119, essv7032118
SamplesSW_1115, SW_0244
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)esv2763977
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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