A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764092



Internal ID10378128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136664597..136858434hg38UCSC Ensembl
Innerchr8:137676840..137870677hg19UCSC Ensembl
Innerchr8:137746022..137939859hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38193838
hg19193838
hg18193838
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993437, essv6993430, essv6993422, essv6993431, essv6993417, essv6993439, essv6993462, essv6993429, essv6993452, essv6993450, essv6993449, essv6993436, essv6993432, essv6993454, essv6993460, essv6993443, essv6993435, essv6993428, essv6993457, essv6993438, essv6993418, essv6993433, essv6993424, essv6993447, essv6993420, essv6993444, essv6993446, essv6993442, essv6993451, essv6993421, essv6993427, essv6993459, essv6993425, essv6993455, essv6993463, essv6993419, essv6993441, essv6993461, essv6993448, essv6993453, essv6993426, essv6993458, essv6993440
SamplesSW_1125, SW_1283, SW_1170, SW_1063, SW_0639, SW_0149, SW_1348, SW_1330, SW_1078, SW_0875, SW_1447, SW_0033, SW_0116, SW_0099, SW_1258, SW_0376, SW_1085, SW_0312, SW_0525, SW_1485, SW_1446, SW_1452, SW_0008, SW_1122, SW_1423, SW_1341, SW_0843, SW_1113, SW_1440, SW_0007, SW_0814, SW_1318, SW_0031, SW_1083, SW_0872, SW_0049, SW_0579, SW_1008, SW_0144, SW_1128, SW_0790, SW_0241, SW_1208
Known Genes
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)esv2764092
Frequency
Sample Size1109
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer