A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764172



Internal ID10031522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40910..593899hg38UCSC Ensembl
Innerchr9:40910..593899hg19UCSC Ensembl
Innerchr9:30910..583899hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38552990
hg19552990
hg18552990
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993501, essv6993499, essv6993495, essv6993496, essv6993497, essv6993494, essv6993502, essv6993493, essv6993504, essv6993503, essv6993498
SamplesSW_1459, SW_1437, SW_1100, SW_1448, SW_1404, SW_0856, SW_0631, SW_0002, SW_1274, SW_1345, SW_1405
Known GenesC9orf66, CBWD1, DOCK8, FOXD4, KANK1
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)esv2764172
Frequency
Sample Size1109
Observed Gain6
Observed Loss5
Observed Complex0
Frequencyn/a


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