A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8n27



Internal ID20132266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12800601..12854043hg38UCSC Ensembl
chr1:12860749..12913896hg19UCSC Ensembl
chr1:12783336..12836483hg18UCSC Ensembl
chr1:12795015..12848162hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3853443
hg1953148
hg1853148
hg1753148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460317, nsv458884, nsv457440, nsv458551, nsv455996, nsv459440, nsv458440, nsv460128, nsv460250, nsv460195, nsv460184, nsv457773, nsv458773, nsv460261, nsv459662, nsv457996, nsv460217, nsv460161, nsv460284, nsv456662, nsv456218, nsv456551, nsv460206, nsv456885, nsv460328, nsv458107, nsv460173, nsv460228, nsv459551, nsv460084, nsv468616, nsv458662, nsv460295, nsv459329, nsv460150, nsv468838, nsv460062, nsv460117, nsv460306, nsv459107, nsv456440, nsv457551, nsv459218, nsv460339, nsv468727, nsv460050, nsv460028, nsv455774, nsv456996, nsv467616, nsv458329, nsv460095, nsv468505, nsv455885, nsv460017, nsv460139, nsv460073, nsv458996, nsv457329, nsv457218, nsv469171, nsv467727, nsv460039, nsv469393, nsv456107, nsv457885, nsv456774, nsv456329, nsv460006, nsv457662, nsv460239
SamplesNINDS_266, HGDP00964, HGDP00285, HGDP00267, HGDP01296, HGDP00813, NINDS_219, 1782681287_A, HGDP01352, 1787431167_A, 1782681236_A, 1780862263_A, HGDP01191, 1780862574_A, HGDP00694, NINDS_182, HGDP00791, HGDP00856, HGDP01010, HGDP00279, 1780854095_A, NINDS_70, HGDP01363, HGDP00945, HGDP01361, NINDS_253, HGDP01372, NINDS_109, HGDP00896, 1780862015_A, 1780862229_A, HGDP01375, 1780862346_A, NINDS_90, HGDP00423, HGDP01338, 1780854341_A, HGDP00251, NINDS_83, HGDP00106, NINDS_240, HGDP01306, NINDS_50, HGDP01321, HGDP00869, HGDP00351, HGDP01003, HGDP00950, HGDP01360, 1780854216_A, HGDP01368, NINDS_198, HGDP01400, HGDP00748, HGDP00364, NINDS_117, HGDP00169, HGDP00751, HGDP00781, HGDP01369, HGDP00780, 1798860277_A, NINDS_134, NINDS_27, 1780854384_A, NINDS_258, HGDP00732, 1780862390_A, 1780862250_A, HGDP01330, 1780854357_A
Known GenesHNRNPCL1, LOC649330, PRAMEF11
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)dgv8n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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