A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760988



Internal ID10028350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99397365..99404956hg38UCSC Ensembl
Innerchr12:99791143..99798734hg19UCSC Ensembl
Innerchr12:98315274..98322865hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg387592
hg197592
hg187592
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997506, essv6997507, essv6997528, essv6997498, essv6997521, essv6997504, essv6997533, essv6997541, essv6997529, essv6997525, essv6997515, essv6997538, essv6997544, essv6997517, essv6997553, essv6997536, essv6997537, essv6997540, essv6997555, essv6997546, essv6997516, essv6997554, essv6997530, essv6997535, essv6997512, essv6997543, essv6997548, essv6997531, essv6997501, essv6997502, essv6997547, essv6997551, essv6997519, essv6997518, essv6997527, essv6997514, essv6997520, essv6997539, essv6997558, essv6997496, essv6997499, essv6997526, essv6997509, essv6997513, essv6997549, essv6997524, essv6997550, essv6997532, essv6997557, essv6997552, essv6997542, essv6997497, essv6997508, essv6997505, essv6997510, essv6997503
SamplesSW_0119, SW_1055, SW_0831, SW_0837, SW_1265, SW_1054, SW_1240, SW_0636, SW_1020, SW_1102, SW_0158, SW_1402, SW_0048, SW_0019, SW_0020, SW_0057, SW_0647, SW_0113, SW_0663, SW_1253, SW_0855, SW_0701, SW_1065, SW_1214, SW_1287, SW_1175, SW_1235, SW_0141, SW_1304, SW_1098, SW_1119, SW_0822, SW_1017, SW_1208, SW_0605, SW_1223, SW_1059, SW_0786, SW_1211, SW_1187, SW_1028, SW_1111, SW_1275, SW_0775, SW_1053, SW_1225, SW_0829, SW_0638, SW_1062, SW_0857, SW_0621, SW_1263, SW_1273, SW_1125, SW_1118, SW_1176
Known GenesANKS1B
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)esv2760988
Frequency
Sample Size1109
Observed Gain1
Observed Loss55
Observed Complex0
Frequencyn/a


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