A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762706



Internal ID10375504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140354370..140419829hg38UCSC Ensembl
Innerchr7:140054170..140119629hg19UCSC Ensembl
Innerchr7:139700639..139766098hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3865460
hg1965460
hg1865460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7015123
SamplesRW_0348
Known GenesRAB19, SLC37A3
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)esv2762706
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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