A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664726



Internal ID9930831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37418845..37422300hg38UCSC Ensembl
chr17:35778929..35782406hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg383456
hg193478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv550e199
Supporting Variantsessv5693891, essv5786354, essv5770950, essv5464465, essv5965010, essv5850041, essv5979053, essv6081221, essv5552630, essv6331699, essv6289894, essv5948071, essv6468894, essv5829457, essv5925299, essv6121737, essv5759932, essv6303738, essv6221796, essv5571757, essv6575401, essv5610350, essv5753079, essv5508341, essv6043250, essv6443220, essv6090322, essv6586008, essv5996541, essv5434614, essv5655199, essv5962096, essv6317606, essv6493557
SamplesNA11830, NA19058, NA20531, NA20802, HG00693, NA07346, HG00634, NA19062, HG00247, HG00309, NA18908, HG00108, NA18614, NA12342, NA12003, NA20810, NA20760, HG00475, HG00239, NA18626, HG00404, HG00373, HG00321, NA18536, NA20522, NA18542, HG00256, NA18501, HG00174, NA20786, NA19063, NA19074, HG00553, NA18577
Known GenesTADA2A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664726
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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