A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760987



Internal ID10028349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57791244..58448438hg38UCSC Ensembl
Innerchr6:58140300..58774716hg19UCSC Ensembl
Innerchr6:58248259..58882675hg18UCSC Ensembl
Cytoband6p11.1
Allele length
AssemblyAllele length
hg38657195
hg19634417
hg18634417
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013674, essv7013671, essv7013677, essv7013675, essv7013673, essv7013681, essv7013682, essv7013676, essv7013672, essv7013670, essv7013679, essv7013680
SamplesRW_0129, RW_0131, RW_0570, RW_0549, RW_0239, RW_0187, RW_0667, RW_0106, RW_0216, RW_0132, RW_0590, RW_0639
Known GenesGUSBP4
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)esv2760987
Frequency
Sample Size1109
Observed Gain7
Observed Loss5
Observed Complex0
Frequencyn/a


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