A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761201



Internal ID10377508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:55237809..55288562hg38UCSC Ensembl
Innerchr8:56150369..56201122hg19UCSC Ensembl
Innerchr8:56312923..56363676hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3850754
hg1950754
hg1850754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7016796, essv7016795
SamplesRW_0309, RW_0631
Known GenesXKR4
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)esv2761201
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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