A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790179



Internal ID18833717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:28969569..29059824hg38UCSC Ensembl
Innerchr21:30341891..30432145hg19UCSC Ensembl
Innerchr21:29263762..29354016hg18UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3890256
hg1990255
hg1890255
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893402
Supporting Variants
Samples
Known GenesCCT8, LTN1, RWDD2B, USP16
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790179
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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