A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784955



Internal ID19179328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70913675..71060271hg38UCSC Ensembl
Innerchr5:70209502..70356098hg19UCSC Ensembl
Innerchr5:70245258..70391854hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38146597
hg19146597
hg18146597
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890646
Supporting Variants
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, NAIP, SERF1A, SERF1B, SMN1, SMN2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=26
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784955
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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