A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891470



Internal ID18839180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:1005374..1856757hg38UCSC Ensembl
Outerchr2:1005374..1856757hg38UCSC Ensembl
Innerchr2:1001060..1860529hg19UCSC Ensembl
Outerchr2:1001060..1860529hg19UCSC Ensembl
Innerchr2:991060..1839536hg18UCSC Ensembl
Outerchr2:991060..1839536hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38851384
hg19859470
hg18848477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788175
Samples
Known GenesMYT1L, PXDN, SNTG2, TPO
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891470
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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