A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892888



Internal ID19183708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75505538..75538114hg38UCSC Ensembl
Outerchr16:75505538..75541512hg38UCSC Ensembl
Innerchr16:75539436..75572012hg19UCSC Ensembl
Outerchr16:75539436..75575410hg19UCSC Ensembl
Innerchr16:74096937..74129513hg18UCSC Ensembl
Outerchr16:74096937..74132911hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3835975
hg1935975
hg1835975
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25778981, essv25788139, essv25792942, essv25783741
Samples
Known GenesCHST5, TMEM231
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892888
Frequency
Sample Size3017
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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