A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630350



Internal ID7017169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90921771..90925038hg38UCSC Ensembl
Innerchr12:90921771..90925038hg38UCSC Ensembl
Outerchr12:90921517..90925276hg38UCSC Ensembl
chr12:91315548..91318815hg19UCSC Ensembl
Innerchr12:91315548..91318815hg19UCSC Ensembl
Outerchr12:91315294..91319053hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg383268
hg193268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14567766, essv14567767
SamplesHG03015, HG02792
Known GenesLINC00615
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630350
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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