A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv93e55



Internal ID18985324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:19961833..22472558hg38UCSC Ensembl
chr15:20167086..22869764hg19UCSC Ensembl
chr15:18427100..20421205hg18UCSC Ensembl
chr15:18427100..20421205hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382510726
hg192702679
hg181994106
hg171994106
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34219, esv34301, esv2751451, esv2751354, esv2751352, esv2751358, esv2751473, esv2751454, esv2751463, esv2751452, esv2751355, esv34649, esv2751359, esv2751353, esv2751362, esv34361, esv2751448, esv2751357, esv2751360, esv34794, esv2751361, esv2751462, esv2751351
SamplesNA19207, NA12043, NA18861, BEC_58, BEC_775, SPC_129, BEC_330, BEC_683, BEC_499, NA19100, BEC_658, NA18502, NA19154, BEC_333, NA18942, SPC_4, BEC_727, BEC_589, SPC_118, BEC_316, BEC_460, BEC_718, SPC_147
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L1, GOLGA6L6, GOLGA8CP, GOLGA8DP, HERC2P3, LOC646214, LOC727924, MIR4509-1, MIR4509-2, MIR4509-3, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3, TUBGCP5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv93e55
Frequency
Sample Size771
Observed Gain91
Observed Loss0
Observed Complex0
Frequencyn/a


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