A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668583



Internal ID9934688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132563130..132563836hg38UCSC Ensembl
Outerchr12:132562759..132564206hg38UCSC Ensembl
Innerchr12:133139716..133140422hg19UCSC Ensembl
Outerchr12:133139345..133140792hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381448
hg191448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5752986, essv6052128, essv6505922, essv5780346, essv5660832, essv5814456, essv5488764, essv5665608, essv5882172, essv5591484, essv5485042, essv6037421, essv5538718, essv5905164, essv5495399, essv6488986, essv5947264, essv6372731, essv6177072, essv6322668, essv6378355, essv6371824, essv6073786, essv5718233, essv6125846, essv6508084, essv5742719, essv6016506, essv5724728, essv6488591, essv6455287, essv5718384, essv6318514, essv6168297
SamplesNA19701, NA19700, NA19914, NA20294, NA19819, NA20332, NA19920, NA20317, NA19916, NA20336, NA19904, NA19917, NA20340, NA19901, NA20342, NA20127, NA19921, NA19908, NA19707, NA19982, NA20344, NA20299, NA19625, NA20296, NA19834, NA19712, NA19835, NA20281, NA20341, NA19818, NA20334, NA19713, NA19711, NA20322
Known GenesFBRSL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668583
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer