A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798115



Internal ID18822751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:180868708..180892966hg38UCSC Ensembl
Innerchr2:181733435..181757693hg19UCSC Ensembl
Innerchr2:181441680..181465938hg18UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3824259
hg1924259
hg1824259
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893513
Supporting Variants
Samples
Known GenesSCHLAP1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798115
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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