A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9657580



Internal ID13605903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52419890..52419909hg38UCSC Ensembl
Innerchr12:52419886..52419913hg38UCSC Ensembl
Outerchr12:52419867..52419932hg38UCSC Ensembl
chr12:52813674..52813693hg19UCSC Ensembl
Innerchr12:52813670..52813697hg19UCSC Ensembl
Outerchr12:52813651..52813716hg19UCSC Ensembl
chr12:51099941..51099960hg18UCSC Ensembl
Innerchr12:51099964..51099937hg18UCSC Ensembl
Outerchr12:51099918..51099983hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3347306
Supporting Variants
SamplesNA12815
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9657580
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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