A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25781712



Internal ID18834609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87808912..88010269hg38UCSC Ensembl
Innerchr16:87842518..88043875hg19UCSC Ensembl
Innerchr16:86400019..86601376hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38201358
hg19201358
hg18201358
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892935
Supporting Variants
Samples
Known GenesBANP, CA5A, MIR6775, SLC7A5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=56
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25781712
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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