A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894046



Internal ID18838214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144072718..144114634hg38UCSC Ensembl
Outerchr4:144072718..144114634hg38UCSC Ensembl
Innerchr4:144993871..145035787hg19UCSC Ensembl
Outerchr4:144993871..145035787hg19UCSC Ensembl
Innerchr4:145213321..145255237hg18UCSC Ensembl
Outerchr4:145213321..145255237hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3841917
hg1941917
hg1841917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787952, essv25787975
Samples
Known GenesGYPA
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894046
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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