A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014802



Internal ID9988163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76550397..76640970hg38UCSC Ensembl
Innerchr7:76179714..76270287hg19UCSC Ensembl
Innerchr7:76017650..76108223hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3890574
hg1990574
hg1890574
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761124
Supporting Variants
SamplesRW_0088
Known GenesLOC100133091, POMZP3
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)essv7014802
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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