A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8672229



Internal ID13734858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105044592..105044602hg38UCSC Ensembl
Innerchr12:105044584..105044610hg38UCSC Ensembl
Outerchr12:105044571..105044620hg38UCSC Ensembl
chr12:105438370..105438380hg19UCSC Ensembl
Innerchr12:105438362..105438388hg19UCSC Ensembl
Outerchr12:105438349..105438398hg19UCSC Ensembl
chr12:103962500..103962510hg18UCSC Ensembl
Innerchr12:103962518..103962492hg18UCSC Ensembl
Outerchr12:103962479..103962528hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3442903
Supporting Variants
SamplesNA12892
Known GenesALDH1L2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8672229
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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