A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763755



Internal ID10377791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75347667..75742905hg38UCSC Ensembl
Innerchr3:75396818..75792056hg19UCSC Ensembl
Innerchr3:75479508..75874746hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38395239
hg19395239
hg18395239
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027449, essv7027422, essv7027447, essv7027388, essv7027433, essv7027400, essv7027455, essv7027396, essv7027399, essv7027375, essv7027450, essv7027425, essv7027436, essv7027429, essv7027411, essv7027428, essv7027393, essv7027431, essv7027382, essv7027438, essv7027384, essv7027383, essv7027405, essv7027444, essv7027386, essv7027381, essv7027430, essv7027415, essv7027420, essv7027421, essv7027394, essv7027427, essv7027443, essv7027380, essv7027416, essv7027418, essv7027439, essv7027417, essv7027391, essv7027403, essv7027392, essv7027440, essv7027395, essv7027402, essv7027377, essv7027441, essv7027373, essv7027404, essv7027376, essv7027389, essv7027461, essv7027387, essv7027454, essv7027397, essv7027459, essv7027434, essv7027407, essv7027442, essv7027445, essv7027419, essv7027437, essv7027451, essv7027458, essv7027385, essv7027374, essv7027456, essv7027452, essv7027426, essv7027406, essv7027453, essv7027414, essv7027378, essv7027432, essv7027448, essv7027460, essv7027423, essv7027410, essv7027398, essv7027408, essv7027409
SamplesSW_1439, SW_1402, SW_1063, SW_1017, SW_0072, SW_0257, SW_1409, SW_1304, SW_0341, SW_1174, SW_1397, SW_0890, SW_1058, SW_1293, SW_1032, SW_1197, SW_1013, SW_1261, SW_0800, SW_0759, SW_0604, SW_1245, SW_1221, SW_1305, SW_1057, SW_0507, SW_0552, SW_1309, SW_1153, SW_0830, SW_0817, SW_1470, SW_1053, SW_1095, SW_0021, SW_0631, SW_1356, SW_1414, SW_1179, SW_0701, SW_0089, SW_1103, SW_1274, SW_0271, SW_0183, SW_1140, SW_1182, SW_1327, SW_1094, SW_0576, SW_1060, SW_0253, SW_0829, SW_0814, SW_0323, SW_1068, SW_1116, SW_1313, SW_1520, SW_0632, SW_0198, SW_0043, SW_1039, SW_1571, SW_1215, SW_1008, SW_1087, SW_0160, SW_1262, SW_1128, SW_0352, SW_1484, SW_0242, SW_1003, SW_0100, SW_0225, SW_0836, SW_1430, SW_0239
Known GenesFAM86DP, FLJ20518, FRG2C, LINC00960, MIR1324, MIR4273, ZNF717
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)esv2763755
Frequency
Sample Size1109
Observed Gain8
Observed Loss71
Observed Complex0
Frequencyn/a


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