A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761150



Internal ID10028512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:35906411..35969958hg38UCSC Ensembl
Innerchr7:35946021..36009568hg19UCSC Ensembl
Innerchr7:35912546..35976093hg18UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3863548
hg1963548
hg1863548
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014575, essv7014574, essv7014573
SamplesRW_0585, RW_0578, RW_0255
Known GenesSEPT7
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)esv2761150
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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