A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893480



Internal ID19184300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37374026..37462058hg38UCSC Ensembl
Outerchr22:37374026..37462058hg38UCSC Ensembl
Innerchr22:37770066..37858096hg19UCSC Ensembl
Outerchr22:37770066..37858096hg19UCSC Ensembl
Innerchr22:36100012..36188042hg18UCSC Ensembl
Outerchr22:36100012..36188042hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3888033
hg1988031
hg1888031
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788204
Samples
Known GenesELFN2
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893480
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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