A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675661



Internal ID9595080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158757135..158758219hg38UCSC Ensembl
chr1:158726925..158728009hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381085
hg191085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv73e199
Supporting Variantsessv5817946, essv6038942, essv6504878, essv6033130, essv6461885, essv5755280, essv5810762, essv6584336, essv6233926, essv6219690, essv5627848, essv6045298, essv5400552, essv5410486, essv5769522, essv5518128, essv5627363, essv6263678, essv6043325, essv6549791, essv6437652, essv6147170, essv5945084, essv5852293, essv5985781, essv5623693, essv6133858, essv6292721, essv5474098, essv5527992, essv6102425, essv5841174, essv6305048, essv5462036, essv6432834, essv5786494, essv5799296, essv6200786, essv5966887, essv5983015, essv6574006, essv5849731, essv5664004, essv6115692, essv5526101
SamplesNA18502, NA11995, NA11829, NA10851, NA18507, NA18603, NA12045, NA12004, NA19190, NA18870, NA18526, NA07346, NA18563, NA18550, NA18489, NA19138, NA12005, NA19238, NA11994, NA12003, NA18579, NA18566, NA19114, NA11894, NA18853, NA19099, NA19257, NA18555, NA19225, NA18523, NA18858, NA18576, NA12043, NA18909, NA18952, NA19147, NA19240, NA07037, NA12763, NA18501, NA19093, NA18552, NA18505, NA19129, NA18511
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675661
Frequency
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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