A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788765



Internal ID18815334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:46773197..46810074hg38UCSC Ensembl
Innerchr19:47276454..47313331hg19UCSC Ensembl
Innerchr19:51968294..52005171hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3836878
hg1936878
hg1836878
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893223
Supporting Variants
Samples
Known GenesSLC1A5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788765
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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