A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783617



Internal ID19170020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76921946..76971738hg38UCSC Ensembl
Innerchr1:77387631..77437423hg19UCSC Ensembl
Innerchr1:77160219..77210011hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3849793
hg1949793
hg1849793
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893734
Supporting Variants
Samples
Known GenesST6GALNAC5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783617
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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