A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675145



Internal ID9594564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59581052..59584964hg38UCSC Ensembl
chr1:60046724..60050636hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg383913
hg193913
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6134600, essv5766495, essv5594846, essv5936654, essv6490370, essv5836677, essv6178956, essv6013188, essv6340935, essv5452430, essv5711761, essv6001803, essv6136453, essv5725823, essv5739778, essv6338778, essv5482150, essv6248221, essv5718470, essv6549590, essv5486420, essv5927958, essv5670406, essv5587908, essv5952026, essv6106626, essv5424108, essv6002528, essv5801576, essv5896563, essv5741013, essv5600015, essv5517341, essv5413437, essv5666667, essv6142742, essv6300017, essv6005953, essv5791445, essv6251024, essv5606970, essv6192134, essv6269806, essv6141439, essv5987597, essv5688666, essv5794346, essv5463793, essv5712394, essv5439562, essv6038694, essv6193490, essv6437657, essv6481218, essv5563912, essv6232705, essv6525318, essv6144503, essv5840074, essv5725898, essv6221384, essv5621702, essv5933312, essv5560927, essv5577620, essv6086386, essv6503878, essv6506205, essv5850873, essv6314893, essv6481727, essv5641383, essv5813807, essv5739303
SamplesNA19248, NA20787, NA18520, NA20527, NA18933, NA18523, NA19455, NA20294, NA19319, NA20296, NA20775, NA18948, NA19430, NA19359, NA20786, NA19782, NA19379, NA19648, NA18965, NA19472, NA18873, NA18626, NA19762, HG00543, NA19062, NA19428, NA18912, NA11994, HG00096, HG01048, NA18856, NA18956, NA18959, NA20769, NA19360, NA19377, NA19380, NA19172, NA20291, NA20126, HG00629, NA19102, HG00260, HG00103, NA19909, HG00512, HG01070, NA19707, NA19382, NA19318, NA19711, HG01190, NA18907, NA18909, NA19394, NA19403, NA19009, HG00138, NA19431, NA20287, NA19818, NA19063, NA19327, NA19371, NA20758, NA19470, HG00367, NA19130, HG00690, NA19350, NA19381, NA19087, NA19456, NA19746
Known GenesFGGY
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675145
Frequency
Sample Size1151
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


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