A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659915



Internal ID9579334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32260004..32261201hg38UCSC Ensembl
chr5:32260110..32261307hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381198
hg191198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5931862, essv6050808, essv6100268, essv6224043, essv6406246, essv5462768, essv6394796, essv5831056, essv5805737, essv6581256, essv5603857, essv6203830, essv6034792, essv6359096, essv5560299, essv5491994, essv6175767, essv5823571, essv6191562, essv5679271, essv6442423, essv6552000, essv5852043, essv5846169, essv6364812, essv6357505, essv6531866, essv6340557, essv5899319, essv6087502, essv5955159, essv6100606, essv6135556, essv6253936
SamplesNA18964, HG00500, NA19060, HG00614, HG01492, HG00475, NA19449, HG00699, HG00592, HG00583, NA18576, NA18622, NA18617, HG00372, NA19429, NA18959, HG00258, NA18982, NA19360, HG00268, HG00559, NA18941, NA18564, NA19347, HG00534, HG00236, NA18987, HG00663, HG00530, NA18917, NA12546, NA19758, NA19087, NA19007
Known GenesMTMR12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659915
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