A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594454



Internal ID6634730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223817478..223817994hg38UCSC Ensembl
Innerchr2:223817528..223817944hg38UCSC Ensembl
Outerchr2:223817428..223818044hg38UCSC Ensembl
chr2:224682195..224682711hg19UCSC Ensembl
Innerchr2:224682245..224682661hg19UCSC Ensembl
Outerchr2:224682145..224682761hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10865099, essv10865089, essv10865082, essv10865092, essv10865094, essv10865066, essv10865100, essv10865076, essv10865080, essv10865087, essv10865077, essv10865102, essv10865078, essv10865093, essv10865086, essv10865079, essv10865101, essv10865075, essv10865104, essv10865097, essv10865081, essv10865084, essv10865067, essv10865070, essv10865103, essv10865071, essv10865085, essv10865069, essv10865091, essv10865096, essv10865095, essv10865074, essv10865073, essv10865088, essv10865083, essv10865090, essv10865068, essv10865098, essv10865072
SamplesHG02715, HG02808, NA19321, HG03280, NA19222, HG02816, NA19209, HG02549, HG03304, NA19319, HG01488, HG03298, HG02817, HG03538, HG01088, HG02703, HG03559, NA19096, HG02861, HG02763, HG03583, HG02941, HG03126, HG02878, HG02449, NA18502, HG02807, HG02582, HG01405, NA19041, HG03074, HG02464, HG02721, NA19204, NA18908, HG02505, NA18881, NA19922, HG03082
Known GenesAP1S3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594454
Frequency
Sample Size2504
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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