A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674270



Internal ID9940375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:91320783..91328415hg38UCSC Ensembl
chr5:90616600..90624232hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg387633
hg197633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6211196, essv6126922, essv6499346, essv5551403, essv6336835, essv5626914, essv5829084, essv5570647, essv5982662, essv5485842, essv5644502, essv6164974
SamplesNA19819, NA19107, NA19379, NA19319, NA18916, NA19130, NA19707, NA18934, NA19469, NA20296, HG01108, NA20281
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674270
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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