A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2675145

Internal ID9594564
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59581052..59584964hg38UCSC Ensembl
chr1:60046724..60050636hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2675145
Sample Size1151
Observed Gain0
Observed Loss74
Observed Complex0

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