A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761067



Internal ID10028429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:35503469..35605468hg38UCSC Ensembl
Innerchr6:35471246..35573245hg19UCSC Ensembl
Innerchr6:35579224..35681223hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38102000
hg19102000
hg18102000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013623, essv7013628, essv7013627, essv7013626, essv7013621, essv7013620, essv7013630, essv7013625, essv7013617, essv7013624, essv7013629, essv7013618, essv7013619, essv7013631
SamplesRW_0178, RW_0090, RW_0560, RW_0226, RW_0096, RW_0551, RW_0639, RW_0540, RW_0655, RW_0625, RW_0307, RW_0207, RW_0248, RW_0594
Known GenesFKBP5, TULP1
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)esv2761067
Frequency
Sample Size1109
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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