A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666909



Internal ID9586328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168693103..168693219hg38UCSC Ensembl
chr4:169614254..169614370hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6056945, essv6027940, essv6354436, essv6044686, essv5747909, essv5820650, essv6541881, essv5437857, essv6464184, essv5815005, essv6487321, essv6155301, essv5613731, essv5622247, essv6349847, essv5796697, essv6396711, essv5518630, essv6220303, essv6296886, essv6379096, essv6385380, essv5877237, essv6448280, essv5576330, essv5591174, essv5438317, essv5727554, essv5492366, essv5919832, essv5538793, essv6458291, essv6592783, essv6422851, essv5970804, essv6044079, essv6436895, essv6325044, essv5416147, essv5628224, essv6245982, essv5486490, essv6364622, essv5592064, essv5493754, essv5406385, essv6115484, essv6113363, essv5675377, essv6359084, essv6451660, essv6204777, essv5584075, essv5782312
SamplesHG00613, NA18621, HG00607, NA18530, HG00418, NA18561, HG00437, HG00500, HG01173, HG01083, HG00707, HG00614, HG00475, HG00542, HG00319, HG00699, HG00543, HG01107, NA18559, HG00339, NA19428, HG00346, HG00472, HG00421, NA18622, HG00689, HG00419, HG00254, HG00284, HG00584, HG00436, NA19360, NA19380, NA18620, NA18633, HG00653, HG00672, NA18613, HG00513, HG00329, HG00525, NA18606, NA18582, NA19138, NA19391, HG00448, NA18602, HG00608, HG00422, HG00708, HG00693, HG00251, HG00442, NA19381
Known GenesPALLD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666909
Frequency
Sample Size1151
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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