A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007191



Internal ID10348732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:792179..1057783hg38UCSC Ensembl
Innerchr2:792188..1053469hg19UCSC Ensembl
Innerchr2:782188..1043469hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38265605
hg19261282
hg18261282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762237
Supporting Variants
SamplesRW_0599
Known GenesLINC01115, SNTG2
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)essv7007191
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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