A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890645



Internal ID19184729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70893453..70955874hg38UCSC Ensembl
Outerchr5:70828526..71003941hg38UCSC Ensembl
Innerchr5:70189280..70251701hg19UCSC Ensembl
Outerchr5:70124353..70299768hg19UCSC Ensembl
Innerchr5:70225036..70287457hg18UCSC Ensembl
Outerchr5:70160109..70335524hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38175416
hg19175416
hg18175416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25786235, essv25781717, essv25780841, essv25780906, essv25780507, essv25799333, essv25799624, essv25800089, essv25780924, essv25781432, essv25786909, essv25784130, essv25782277
Samples
Known GenesNAIP, SERF1A, SERF1B, SMA4, SMN1, SMN2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890645
Frequency
Sample Size3017
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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