A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663259



Internal ID9929364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239476553..239476817hg38UCSC Ensembl
chr2:240398247..240398511hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5463627, essv5772527, essv6498244, essv5812087, essv6531170, essv6312632, essv5975071, essv6291781, essv5472792, essv6564698, essv6001723, essv6422361, essv6227725, essv6413938, essv5580010, essv6354326, essv6272446, essv6149061, essv5981439, essv5829455, essv6489617, essv6350098, essv5958063, essv5908328, essv6386256, essv5832429, essv5645422, essv5837043, essv5798360, essv6575434, essv6363041, essv5830161
SamplesHG01060, HG00699, NA18602, HG01083, HG01365, HG00537, HG00277, HG00232, HG00137, NA18613, HG00443, HG00428, HG00701, HG00657, HG00436, HG00584, NA18637, NA18566, HG00284, HG01073, HG00331, NA18532, HG00525, NA18632, NA18543, NA18559, HG00278, HG00473, HG00672, HG00698, NA18549, HG00437
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663259
Frequency
Sample Size1151
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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