A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8957040



Internal ID14950894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42731454..42731483hg38UCSC Ensembl
Innerchr12:42731467..42731470hg38UCSC Ensembl
Outerchr12:42731438..42731499hg38UCSC Ensembl
chr12:43125256..43125285hg19UCSC Ensembl
Innerchr12:43125269..43125272hg19UCSC Ensembl
Outerchr12:43125240..43125301hg19UCSC Ensembl
chr12:41411523..41411552hg18UCSC Ensembl
Innerchr12:41411539..41411536hg18UCSC Ensembl
Outerchr12:41411507..41411568hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg386068
hg196068
hg186068
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3327710
Supporting Variants
SamplesNA19172
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8957040
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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