A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783605



Internal ID19169958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70785607..71013034hg38UCSC Ensembl
Innerchr5:70081434..70308861hg19UCSC Ensembl
Innerchr5:70117190..70344617hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38227428
hg19227428
hg18227428
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890650
Supporting Variants
Samples
Known GenesGUSBP9, NAIP, SERF1A, SERF1B, SMA4, SMN1, SMN2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=40
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783605
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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