A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764122



Internal ID10378158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6968154..7002140hg38UCSC Ensembl
Innerchr8:6825676..6859662hg19UCSC Ensembl
Innerchr8:6813086..6847072hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3833987
hg1933987
hg1833987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6992239, essv6992240, essv6992228, essv6992229, essv6992227, essv6992226, essv6992232, essv6992231, essv6992235, essv6992236, essv6992230, essv6992224, essv6992225, essv6992238, essv6992233, essv6992237
SamplesSW_1125, SW_0370, SW_1017, SW_0639, SW_0890, SW_0020, SW_1282, SW_1476, SW_1470, SW_1243, SW_1408, SW_1131, SW_0002, SW_1113, SW_0594, SW_1517
Known GenesDEFA1, DEFA10P, DEFA1B, DEFT1P, DEFT1P2
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)esv2764122
Frequency
Sample Size1109
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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