A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892251



Internal ID19183071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:97679815..97715416hg38UCSC Ensembl
Outerchr12:97679815..97715416hg38UCSC Ensembl
Innerchr12:98073593..98109194hg19UCSC Ensembl
Outerchr12:98073593..98109194hg19UCSC Ensembl
Innerchr12:96597724..96633325hg18UCSC Ensembl
Outerchr12:96597724..96633325hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3835602
hg1935602
hg1835602
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788790
Samples
Known GenesLOC643711
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892251
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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