A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642056



Internal ID7028826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:28393592..28396130hg38UCSC Ensembl
Innerchr18:28393604..28396118hg38UCSC Ensembl
Outerchr18:28393580..28396142hg38UCSC Ensembl
chr18:25973556..25976094hg19UCSC Ensembl
Innerchr18:25973568..25976082hg19UCSC Ensembl
Outerchr18:25973544..25976106hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg382539
hg192539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15829086, essv15829076, essv15829087, essv15829064, essv15829072, essv15829093, essv15829078, essv15829068, essv15829070, essv15829082, essv15829092, essv15829084, essv15829066, essv15829073, essv15829069, essv15829062, essv15829091, essv15829080, essv15829085, essv15829083, essv15829065, essv15829090, essv15829081, essv15829059, essv15829089, essv15829079, essv15829077, essv15829074, essv15829067, essv15829060, essv15829063, essv15829094, essv15829061, essv15829071, essv15829075, essv15829095, essv15829088
SamplesNA19700, NA19204, HG03163, HG02973, HG03175, HG02122, NA18877, HG03130, NA18878, NA18489, HG01167, HG02325, HG03485, HG02054, HG02703, NA19137, NA19075, NA19901, HG03073, HG03394, NA19200, NA18933, NA19081, NA20126, HG01323, HG01889, NA18523, NA19436, NA19035, HG03064, NA19390, NA19712, HG03084, HG01464, HG02465, HG03118, HG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642056
Frequency
Sample Size2504
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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