A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587156



Internal ID6974583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109687453..109698625hg38UCSC Ensembl
chr1:110230075..110241247hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3811173
hg1911173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10061134, essv10061132, essv10061129, essv10061119, essv10061136, essv10061124, essv10061131, essv10061125, essv10061123, essv10061116, essv10061115, essv10061127, essv10061117, essv10061133, essv10061135, essv10061114, essv10061130, essv10061121, essv10061122, essv10061126, essv10061118, essv10061120, essv10061128
SamplesNA18621, NA21127, HG01348, HG03057, HG03449, NA18959, NA19098, HG01167, NA19239, NA20755, NA18539, NA19437, HG01344, NA11894, NA18858, HG02568, NA21094, HG01785, HG03646, HG02013, NA19096, NA19065, HG00437
Known GenesGSTM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587156
Frequency
Sample Size2504
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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