A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1112n54



Internal ID20134536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46172086..46379977hg38UCSC Ensembl
chr10:47543322..47751237hg19UCSC Ensembl
chr10:47013328..47221243hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38207892
hg19207916
hg18207916
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv550760, nsv550751, nsv550757, nsv550755
Samples1782681076_A, HGDP00607, HGDP00640, HGDP01000, 1782681093_A, HGDP00739, HGDP00025, NINDS_243, HGDP00759, HGDP00577, HGDP00154, HGDP00626, HGDP01156, 1780862304_A, HGDP00423, 1780862433_A, 1780862410_A, 1780854039_A, HGDP00677, HGDP00742, 1782681086_A, HGDP00945, HGDP00886, HGDP00600, 1780854537_A, 1780854556_A, 1780854464_A, 1780854517_A, HGDP00251, HGDP00476, 1787431198_A, HGDP00462, 1780862599_A, HGDP00612, 1780862480_A, 1780862160_A, HGDP00883, HGDP00526, 1798860565_A, HGDP01332, HGDP00895, HGDP00684, 1780854216_A, HGDP00039, HGDP00108, 1780862252_A, HGDP00254, HGDP01253, HGDP00037, 1780862274_A, HGDP00226, 1780862207_A, HGDP00650, 1780854538_A, HGDP00338, HGDP01359, HGDP00996, HGDP00644, 1798860084_A, 1780854463_A, HGDP00693, 1780854382_A, HGDP00649, HGDP00731, 1798860191_A, 1780854393_A, 1798860114_A, HGDP01155, HGDP01248, 1780854441_A, HGDP00901, HGDP00896, HGDP00445, HGDP00882, HGDP00625, HGDP00189, 1798860570_A, HGDP00140, HGDP00007, 1780862416_A, 1782681117_A, 1780854477_A, HGDP00790
Known GenesANTXRL, ANTXRLP1, ANXA8L1, ANXA8L2, FAM25B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1112n54
Frequency
Sample Size17421
Observed Gain163
Observed Loss14
Observed Complex0
Frequencyn/a


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