A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8640699



Internal ID14799745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26497493..26497493hg38UCSC Ensembl
Innerchr12:26497492..26497494hg38UCSC Ensembl
Outerchr12:26497453..26497513hg38UCSC Ensembl
chr12:26650426..26650426hg19UCSC Ensembl
Innerchr12:26650425..26650427hg19UCSC Ensembl
Outerchr12:26650386..26650446hg19UCSC Ensembl
chr12:26541693..26541693hg18UCSC Ensembl
Innerchr12:26541694..26541692hg18UCSC Ensembl
Outerchr12:26541653..26541713hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3883
hg1983
hg1883
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444679
Supporting Variants
Samples
Known GenesITPR2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8640699
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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