A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789043



Internal ID18816196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28814728..29032129hg38UCSC Ensembl
Innerchr16:28826049..29043450hg19UCSC Ensembl
Innerchr16:28733550..28950951hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38217402
hg19217402
hg18217402
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892826
Supporting Variants
Samples
Known GenesATP2A1, ATXN2L, CD19, LAT, LOC100289092, MIR4517, MIR4721, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=31
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789043
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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