A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25786658



Internal ID19171057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232157332..232169785hg38UCSC Ensembl
Innerchr2:233022042..233034495hg19UCSC Ensembl
Innerchr2:232730286..232742739hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3812454
hg1912454
hg1812454
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893569
Supporting Variants
Samples
Known GenesDIS3L2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25786658
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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