A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25778895



Internal ID18829823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71037342..71073570hg38UCSC Ensembl
Innerchr5:70333169..70369397hg19UCSC Ensembl
Innerchr5:70368925..70405153hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3836229
hg1936229
hg1836229
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890648
Supporting Variants
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25778895
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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