A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785572



Internal ID19178037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104581173..104588690hg38UCSC Ensembl
Innerchr12:104974951..104982468hg19UCSC Ensembl
Innerchr12:103499081..103506598hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg387518
hg197518
hg187518
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892264
Supporting Variants
Samples
Known GenesCHST11
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=8
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785572
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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