A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2674163

Internal ID9593582
Location Information
TypeCoordinatesAssemblyOther Links
chr5:343238..343420hg38UCSC Ensembl
chr5:343353..343535hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2674163
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0

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