A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761162



Internal ID10377469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:158492601..158545276hg38UCSC Ensembl
Innerchr7:158285293..158337968hg19UCSC Ensembl
Innerchr7:157978054..158030729hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3852676
hg1952676
hg1852676
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7015571, essv7015570
SamplesRW_0521, RW_0573
Known GenesMIR595, PTPRN2
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)esv2761162
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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