A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2329n54



Internal ID22770224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7808980..7993566hg38UCSC Ensembl
chr12:7961576..8146162hg19UCSC Ensembl
chr12:7852843..8037429hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38184587
hg19184587
hg18184587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557297, nsv557287, nsv557281, nsv557294, nsv557312, nsv557276, nsv557289, nsv557311, nsv557316
SamplesNINDS_78, NINDS_191, HGDP00955, HGDP01350, HGDP01269, HGDP00717, HGDP01326, HGDP01352, HGDP00514, HGDP00120, 1780862521_A, HGDP00259, HGDP00151, 1782681023_A, HGDP00216, HGDP00898, HGDP01188, HGDP00823, HGDP00761, NINDS_59, 1780862577_A, 1780854477_A, HGDP01018, 1780862276_A, 1780862175_A, NINDS_15, 1780862594_A, 1780854357_A
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2329n54
Frequency
Sample Size17421
Observed Gain46
Observed Loss0
Observed Complex0
Frequencyn/a


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