A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7033192



Internal ID10371707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:119874254..119976298hg38UCSC Ensembl
Innerchr6:120195400..120297444hg19UCSC Ensembl
Innerchr6:120237099..120339143hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38102045
hg19102045
hg18102045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763951
Supporting Variants
SamplesSW_1414
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)essv7033192
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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