A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25778483



Internal ID19170870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:38036900..38072876hg38UCSC Ensembl
Innerchr21:39409202..39444970hg19UCSC Ensembl
Innerchr21:38331072..38366840hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3835977
hg1935769
hg1835769
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893408
Supporting Variants
Samples
Known GenesDSCR4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=8
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25778483
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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