A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661875



Internal ID9927980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140712153..140712449hg38UCSC Ensembl
chr4:141633307..141633603hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6247451, essv6124723, essv5423907, essv5610207, essv6410271, essv5602810, essv5412922, essv6296814, essv6003968, essv5977187, essv6257511, essv5545515, essv6228933, essv5757996, essv5464650, essv5988909, essv5594653, essv6262949, essv6343937, essv5938262, essv6165436, essv5853606, essv6374241, essv6423000, essv5603058, essv6397005, essv6403915, essv6209945, essv5461347, essv6369498, essv6300277, essv6504505, essv6186971, essv5687890, essv5405723
SamplesHG00592, NA18999, HG01456, NA19443, NA19067, NA18563, NA19076, HG01488, NA19723, NA18960, NA19771, NA19088, NA18498, NA19681, NA18949, HG01198, NA19403, NA19663, NA19081, NA19788, NA19776, HG01497, NA19009, NA18963, HG00463, NA19685, NA18961, NA18950, HG01551, NA19783, NA19759, NA18609, NA19780, NA19661, HG01082
Known GenesTBC1D9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661875
Frequency
Sample Size1151
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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