A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764097



Internal ID10378133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3720000..5046598hg38UCSC Ensembl
Innerchr8:3577522..4904120hg19UCSC Ensembl
Innerchr8:3564930..4891528hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg381326599
hg191326599
hg181326599
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6992044, essv6992029, essv6992057, essv6992033, essv6992060, essv6992047, essv6992066, essv6992038, essv6992041, essv6992083, essv6992052, essv6992071, essv6992026, essv6992051, essv6992039, essv6992076, essv6992070, essv6992030, essv6992050, essv6992082, essv6992032, essv6992074, essv6992027, essv6992077, essv6992064, essv6992062, essv6992046, essv6992068, essv6992086, essv6992065, essv6992058, essv6992028, essv6992085, essv6992075, essv6992055, essv6992035, essv6992054, essv6992024, essv6992036, essv6992063, essv6992049, essv6992088, essv6992069, essv6992048, essv6992025, essv6992043, essv6992073, essv6992089, essv6992084, essv6992040, essv6992031, essv6992087, essv6992081, essv6992037, essv6992072, essv6992061, essv6992059, essv6992022, essv6992080, essv6992053, essv6992042
SamplesSW_0285, SW_0171, SW_1400, SW_1063, SW_1433, SW_0575, SW_0102, SW_0063, SW_1184, SW_1354, SW_1031, SW_1129, SW_1302, SW_0891, SW_0800, SW_0311, SW_1221, SW_1055, SW_0295, SW_1288, SW_1189, SW_0073, SW_1446, SW_0019, SW_1276, SW_0538, SW_0008, SW_1095, SW_1389, SW_1130, SW_0641, SW_0590, SW_1435, SW_0215, SW_0091, SW_1438, SW_1220, SW_0017, SW_1327, SW_1278, SW_0663, SW_1264, SW_1440, SW_0339, SW_1378, SW_1326, SW_0269, SW_1517, SW_0673, SW_1429, SW_0043, SW_0049, SW_0579, SW_0674, SW_1509, SW_1392, SW_1484, SW_0790
Known GenesCSMD1
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)esv2764097
Frequency
Sample Size1109
Observed Gain6
Observed Loss52
Observed Complex0
Frequencyn/a


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