A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892754



Internal ID18836888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1202441..1243904hg38UCSC Ensembl
Outerchr16:1202441..1243904hg38UCSC Ensembl
Innerchr16:1252441..1293905hg19UCSC Ensembl
Outerchr16:1252441..1293905hg19UCSC Ensembl
Innerchr16:1192442..1233906hg18UCSC Ensembl
Outerchr16:1192442..1233906hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3841464
hg1941465
hg1841465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25778675
Samples
Known GenesCACNA1H, TPSAB1, TPSB2, TPSG1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892754
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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