A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7032077



Internal ID10015631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:40397862..40401873hg38UCSC Ensembl
Innerchr6:40365601..40369612hg19UCSC Ensembl
Innerchr6:40473579..40477590hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg384012
hg194012
hg184012
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763989
Supporting Variants
SamplesSW_1031
Known GenesLRFN2
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)essv7032077
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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