A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25778412



Internal ID19170864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56948404..56976126hg38UCSC Ensembl
Innerchr12:57342188..57369910hg19UCSC Ensembl
Innerchr12:55628455..55656177hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3827723
hg1927723
hg1827723
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892203
Supporting Variants
Samples
Known GenesRDH16
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25778412
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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