A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764246



Internal ID10378282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:87136681..87387242hg38UCSC Ensembl
Innerchr10:88896438..89146999hg19UCSC Ensembl
Innerchr10:88886418..89136979hg18UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38250562
hg19250562
hg18250562
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995157, essv6995158, essv6995146, essv6995174, essv6995164, essv6995165, essv6995160, essv6995152, essv6995167, essv6995172, essv6995149, essv6995151, essv6995163, essv6995168, essv6995173, essv6995161, essv6995153, essv6995162, essv6995148, essv6995171, essv6995150, essv6995156, essv6995170, essv6995169, essv6995159, essv6995154, essv6995147
SamplesSW_1441, SW_0145, SW_1111, SW_0158, SW_1188, SW_1246, SW_1132, SW_1325, SW_1302, SW_0032, SW_1547, SW_1270, SW_0859, SW_1423, SW_1249, SW_1374, SW_1112, SW_0814, SW_0833, SW_1422, SW_0606, SW_1156, SW_0579, SW_0170, SW_1208, SW_0675, SW_1026
Known GenesFAM35A, LOC439994, NUTM2A, NUTM2A-AS1, NUTM2D
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)esv2764246
Frequency
Sample Size1109
Observed Gain4
Observed Loss23
Observed Complex0
Frequencyn/a


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