A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761059



Internal ID10377366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:2355079..2355572hg38UCSC Ensembl
Innerchr6:2355313..2355806hg19UCSC Ensembl
Innerchr6:2300312..2300805hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38494
hg19494
hg18494
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013506, essv7013505
SamplesRW_0523, RW_0220
Known GenesGMDS-AS1
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)esv2761059
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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