A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673137



Internal ID9939242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247991251..247992291hg38UCSC Ensembl
chr1:248154553..248155593hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381041
hg191041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv111e199
Supporting Variantsessv6015309, essv6341687, essv6561976, essv6364012, essv5400663, essv6509298, essv5734116, essv6576470, essv5863640, essv6398537, essv5787095, essv5438812, essv6190908, essv5573281, essv5848081, essv6579441, essv6390825, essv5433712, essv5652529, essv5709676, essv5537008, essv5483555, essv6046768, essv6584917, essv5518378, essv6124912, essv6202410, essv5665957, essv6219068, essv5825587, essv6427201, essv6403968, essv5640203, essv5580237, essv5929591, essv6021075, essv5952167, essv6250797, essv5638191, essv6148938, essv5427162, essv5956593, essv6288249, essv5829697, essv6109221, essv6312671, essv6352079, essv6089381, essv6513665, essv6368627, essv6490894, essv5908545, essv5801622, essv5530277, essv5912510, essv6408321, essv6512178, essv5743160, essv6239738
SamplesHG00442, HG00249, HG01188, NA18599, HG01066, HG00151, HG00449, NA19190, NA19067, NA18988, NA19446, NA18595, NA18982, NA18635, NA18619, NA07347, NA18611, NA19651, NA18560, NA19901, HG00178, HG00419, NA19789, NA12342, NA19077, HG00475, NA19982, HG00344, NA18948, HG00708, NA19064, HG01390, NA19461, NA19084, NA18963, HG00463, NA18945, NA18541, HG00476, NA18543, NA12775, NA20804, HG00607, NA19083, HG00418, NA18610, NA19818, HG00478, NA18636, NA19711, NA18552, HG00252, NA19004, NA18488, HG00628, NA19065, HG00437, NA18562, NA18577
Known GenesOR2L13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673137
Frequency
Sample Size1151
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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