A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763630



Internal ID10030980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97065396..97662587hg38UCSC Ensembl
Innerchr2:97731133..98279050hg19UCSC Ensembl
Innerchr2:97094860..97645482hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38597192
hg19547918
hg18550623
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7016412, essv7016756, essv7016634, essv7016367, essv7016445, essv7016467, essv7016578, essv7016434, essv7016811, essv7016545, essv7016523, essv7016489, essv7016511, essv7016745, essv7016478, essv7016500, essv7016789, essv7016312, essv7016567, essv7016556, essv7016534, essv7016689, essv7016345, essv7016767, essv7016622, essv7016645, essv7016400, essv7016733, essv7016833, essv7016778, essv7016423, essv7016656, essv7016722, essv7016323, essv7016678, essv7016700, essv7016667, essv7016600, essv7016356, essv7016378, essv7016389, essv7016611, essv7016822, essv7016800, essv7016589, essv7016334, essv7016711, essv7016456
SamplesSW_0569, SW_0804, SW_1056, SW_0626, SW_1301, SW_0628, SW_0803, SW_0589, SW_0650, SW_1212, SW_0581, SW_0148, SW_0606, SW_1138, SW_0158, SW_1021, SW_1228, SW_1081, SW_1130, SW_1051, SW_0592, SW_1282, SW_0836, SW_1262, SW_1106, SW_0884, SW_1433, SW_0605, SW_0008, SW_0618, SW_0375, SW_0032, SW_1090, SW_0791, SW_1028, SW_1111, SW_0594, SW_0660, SW_0200, SW_1150, SW_1176, SW_0762, SW_0832, SW_1143, SW_1504, SW_1043, SW_0060
Known GenesACTR1B, ANKRD36, ANKRD36B, COX5B, FAHD2B, LOC100506076, LOC100506123
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)esv2763630
Frequency
Sample Size1109
Observed Gain5
Observed Loss42
Observed Complex0
Frequencyn/a


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