A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783346



Internal ID18813262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70785607..71168599hg38UCSC Ensembl
Innerchr5:70081434..70464426hg19UCSC Ensembl
Innerchr5:70117190..70500182hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38382993
hg19382993
hg18382993
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890652
Supporting Variants
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC647859, NAIP, SERF1A, SERF1B, SMA4, SMN1, SMN2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=58
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783346
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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