A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014812



Internal ID9991700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76568113..76944884hg38UCSC Ensembl
Innerchr7:76197430..76574201hg19UCSC Ensembl
Innerchr7:76035366..76412137hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38376772
hg19376772
hg18376772
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761124
Supporting Variants
SamplesRW_0179
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)essv7014812
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer