A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891448



Internal ID19185844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:499823..843614hg38UCSC Ensembl
Outerchr2:343588..859422hg38UCSC Ensembl
Innerchr2:499823..839556hg19UCSC Ensembl
Outerchr2:343588..855107hg19UCSC Ensembl
Innerchr2:489823..829556hg18UCSC Ensembl
Outerchr2:333588..845107hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38515835
hg19511520
hg18511520
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790931, essv25791328, essv25788734
Samples
Known GenesLINC01115, TMEM18
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891448
Frequency
Sample Size3017
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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