A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761113



Internal ID10377420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143525988..143850179hg38UCSC Ensembl
Innerchr7:143223081..143547272hg19UCSC Ensembl
Innerchr7:142933203..143178205hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38324192
hg19324192
hg18245003
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7015438, essv7015437, essv7015439
SamplesRW_0323, RW_0509, RW_0278
Known GenesCTAGE15, CTAGE6, FAM115C, LOC154761
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)esv2761113
Frequency
Sample Size1109
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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