A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674163



Internal ID9593582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:343238..343420hg38UCSC Ensembl
chr5:343353..343535hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6524149, essv6036938, essv5789767, essv6361503, essv6495343, essv6231231, essv5950296, essv5984140, essv5445451, essv6178239, essv5500926, essv6085949, essv5929839, essv6138852, essv6068706, essv5403444, essv6326973, essv6579223, essv5406861, essv5903768, essv6436909, essv6093732, essv5818608, essv6123407, essv5967746, essv5863509, essv6074810, essv5545838, essv5473600, essv6216950, essv5448053, essv6273650, essv6579207, essv6449449, essv5627673, essv6572005, essv5861443, essv5714668, essv5642106, essv6365638, essv5605567, essv6406951, essv5647833, essv5718461, essv6199620, essv6299018, essv5436014, essv6262364, essv6296077, essv6343805, essv6092114, essv5940368, essv5728494, essv6364057, essv5966919, essv5546851, essv5428728, essv6498230, essv5795773, essv5766273, essv5921979, essv5618427, essv5619585
SamplesHG00323, NA12827, HG00252, NA11930, NA07037, HG01250, HG00344, HG01052, HG00500, HG01173, HG01083, HG00131, NA20544, HG00310, HG01079, HG01389, HG00375, HG00698, HG00111, HG00334, HG00280, HG00366, HG00331, NA19355, HG00253, NA19780, HG01107, HG00339, NA19463, HG00346, HG00337, NA18563, HG00096, HG01061, NA12829, NA11995, HG00276, HG00343, HG01066, HG00325, NA06986, NA18502, NA19731, HG01170, HG00249, HG00513, HG01060, NA20513, NA11830, NA19770, NA20810, NA12399, NA20812, NA12546, HG01366, NA19371, HG00324, HG00137, HG01462, NA20502, NA20772, HG00704, NA19746
Known GenesAHRR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674163
Frequency
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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