A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7032975



Internal ID10359832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:80574472..80585386hg38UCSC Ensembl
Innerchr6:81284189..81295103hg19UCSC Ensembl
Innerchr6:81340908..81351822hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3810915
hg1910915
hg1810915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763979
Supporting Variants
SamplesSW_0802
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)essv7032975
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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