A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv41e199



Internal ID18982095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44555505..44556759hg38UCSC Ensembl
chr1:45021177..45022431hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381255
hg191255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2678394, esv2675612, esv2663806, esv2669009
SamplesNA19012, NA18621, NA19207, NA19625, NA18616, NA18534, HG01052, NA19081, NA18975, NA19114, NA18874, HG00500, NA20510, HG00464, HG00565, NA19469, NA18550, NA19072, NA18545, NA19317, NA19334, HG00577, NA19788, NA18517, NA19010, NA18541, NA19461, NA18963, NA19682, NA19084, NA19472, NA18873, NA18596, HG00543, NA19062, NA19463, NA19067, NA18912, NA18624, NA18508, NA19239, NA19059, NA20356, NA18635, NA19057, NA19443, NA19471, NA19900, NA19722, HG00692, HG00689, NA18592, NA18856, NA19066, HG00178, HG00419, NA19985, NA19256, NA18637, NA18982, NA18634, NA18539, NA12006, NA19055, NA19247, NA19360, NA19313, NA19377, NA19129, NA19172, NA19189, HG00653, NA19373, NA19716, NA19002, NA18564, NA18942, NA18961, NA19347, NA19332, NA19909, HG00512, NA19131, NA18543, NA18940, NA18597, HG00443, NA19391, NA19078, NA19201, NA20332, NA18538, NA19719, NA18544, NA19225, NA18499, NA18571, NA19371, HG00708, NA19916, NA19470, HG00641, NA18574, NA18853, HG01462, NA19473, NA18615, HG00476, NA19200, NA19007, NA19661, NA18553, NA19439
Known GenesRNF220
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv41e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss113
Observed Complex0
Frequencyn/a


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