A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv124n54



Internal ID20133548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12800601..12862756hg38UCSC Ensembl
chr1:12860749..12922611hg19UCSC Ensembl
chr1:12783336..12845198hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3862156
hg1961863
hg1861863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545487, nsv545484, nsv545493, nsv545483, nsv545491, nsv545496, nsv545479, nsv545492, nsv545494, nsv545488, nsv545495, nsv545478, nsv545468, nsv545497, nsv545481
SamplesHGDP01296, 1787431167_A, HGDP00791, HGDP01010, HGDP00423, HGDP01338, HGDP01016, HGDP01003, HGDP01368, HGDP00169, HGDP00709, HGDP00732, 1780854357_A
Known GenesHNRNPCL1, LOC649330, PRAMEF11, PRAMEF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv124n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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