A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761069



Internal ID10377376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:140497604..140777867hg38UCSC Ensembl
Innerchr6:140818741..141099004hg19UCSC Ensembl
Innerchr6:140860434..141140697hg18UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg38280264
hg19280264
hg18280264
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014292, essv7014291
SamplesRW_0586, RW_0612
Known GenesMIR4465
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)esv2761069
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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