A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv175e55



Internal ID18985406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25211818..25567021hg38UCSC Ensembl
chr22:25607785..25962988hg19UCSC Ensembl
chr22:23937785..24292988hg18UCSC Ensembl
chr22:23932339..24287542hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38355204
hg19355204
hg18355204
hg17355204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751948, esv34683, esv2751956, esv2751955, esv34840, esv34857, esv2751949, esv2751942, esv34320, esv34965, esv2751954, esv2751953, esv2751960, esv34990, esv34282, esv34452, esv34375, esv2751962, esv34420, esv34934, esv35154, esv2751944, esv2751947, esv2751951, esv2751943, esv2751946, esv34386, esv34404, esv34668, esv34331, esv2751959, esv2751950, esv35024
SamplesBEC_630, NA12752, SPC_124, NA19223, NA18542, NA18507, BEC_101, NA18632, NA11839, SPC_162, NA12761, NA18956, BEC_387, BEC_236, NA18973, BEC_562, BEC_793, BEC_106, NA06985, SPC_86, NA18558, NA19139, NA19221, NA19138, NA06991, BEC_379, NA19099, BEC_725, BEC_511, BEC_745, NA18532, BEC_131, NA10854
Known GenesADRBK2, CRYBB2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
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)dgv175e55
Frequency
Sample Size771
Observed Gain142
Observed Loss0
Observed Complex0
Frequencyn/a


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