A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv180n27



Internal ID22766909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7840720..7990870hg38UCSC Ensembl
chr12:7993316..8143466hg19UCSC Ensembl
chr12:7884583..8034733hg18UCSC Ensembl
chr12:7884583..8034733hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38150151
hg19150151
hg18150151
hg17150151
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469032, nsv469051, nsv469098, nsv469043, nsv469035, nsv469011, nsv469019, nsv469050, nsv469026, nsv469017, nsv469057, nsv469046, nsv469030, nsv469024, nsv469037, nsv469001, nsv469036, nsv469023, nsv469015, nsv469048, nsv469053, nsv469042, nsv469034, nsv469045, nsv469029, nsv469080, nsv469056, nsv469012, nsv469052, nsv469013, nsv469041, nsv469031, nsv469018, nsv469091, nsv469028, nsv469004, nsv469022, nsv469021, nsv469047, nsv469039, nsv469040, nsv469006, nsv469020, nsv469025, nsv469014, nsv469033
SamplesNINDS_13, NINDS_78, NINDS_191, HGDP00955, HGDP00630, HGDP01350, NINDS_54, HGDP01289, HGDP01269, HGDP00717, HGDP01326, HGDP01352, HGDP00514, HGDP00120, HGDP00694, 1780862521_A, HGDP00911, HGDP00259, HGDP00151, HGDP00525, 1782681023_A, HGDP00066, HGDP00216, NINDS_205, HGDP00898, NINDS_235, HGDP01188, HGDP01264, HGDP00015, HGDP00761, HGDP00197, NINDS_59, 1780862577_A, 1780854477_A, HGDP01018, 1780862276_A, 1780862175_A, NINDS_96, HGDP01341, HGDP00161, 1780854485_A, NINDS_15, 1780862594_A, HGDP00897, HGDP00534, 1780854357_A
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv180n27
Frequency
Sample Size1557
Observed Gain46
Observed Loss0
Observed Complex0
Frequencyn/a


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