A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890650



Internal ID19184734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70801077..70955874hg38UCSC Ensembl
Outerchr5:70747002..71013034hg38UCSC Ensembl
Innerchr5:70096904..70251701hg19UCSC Ensembl
Outerchr5:70042829..70308861hg19UCSC Ensembl
Innerchr5:70132660..70287457hg18UCSC Ensembl
Outerchr5:70078585..70344617hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38266033
hg19266033
hg18266033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25785805, essv25786111, essv25800430, essv25783605, essv25786614, essv25779931
Samples
Known GenesGUSBP9, NAIP, SERF1A, SERF1B, SMA4, SMN1, SMN2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890650
Frequency
Sample Size3017
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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