A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664643



Internal ID9930748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125293465..125293668hg38UCSC Ensembl
chr8:126305707..126305910hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5551406, essv5869116, essv6501287, essv6405264, essv5795278, essv5919014, essv6416448, essv6109639, essv6424088, essv6090325, essv6519530, essv6220701, essv5707777, essv5708424, essv6507154, essv5398749, essv5980110, essv6143062, essv5674249, essv5620269, essv5829634, essv6390546, essv5513950, essv5679877, essv6004182, essv5786686, essv5885006, essv6579889, essv5841524, essv5560263, essv5467222, essv5462988, essv5630218, essv5540835, essv6263805, essv6182479, essv5472051, essv6567868, essv6410962, essv5725931, essv5545792, essv5673790, essv5746465, essv5493404, essv5898744, essv5494445, essv6102726, essv6420307, essv6327830, essv5567284, essv5529344, essv5465490, essv6351427, essv6532387, essv6161668, essv5498684, essv5438227, essv5852276, essv5813897, essv6086084, essv6400955, essv5520908
SamplesHG00442, NA19397, NA18565, NA20816, NA19393, NA18504, NA18606, NA18510, NA19382, NA18597, NA18595, HG00689, HG00448, NA18635, HG00330, NA18571, HG00158, NA12282, NA20278, HG00106, NA19371, HG00422, NA12889, HG00309, NA18520, HG01198, NA20127, NA19451, HG00260, NA18605, NA19403, HG00557, NA19391, HG00500, HG00275, NA20519, NA18548, NA18907, NA20525, HG01073, NA19114, NA20299, NA18532, HG00276, NA18523, HG00126, HG01107, NA19003, NA18632, NA19390, NA19380, NA19311, HG00319, NA18943, NA20281, NA19328, NA19093, NA19726, HG00252, NA18488, HG01125, NA19463
Known GenesNSMCE2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664643
Frequency
Sample Size1151
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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