A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7764850



Internal ID13420148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20320944..20320945hg38UCSC Ensembl
Innerchr12:20320922..20320967hg38UCSC Ensembl
Outerchr12:20320921..20320968hg38UCSC Ensembl
chr12:20473878..20473879hg19UCSC Ensembl
Innerchr12:20473856..20473901hg19UCSC Ensembl
Outerchr12:20473855..20473902hg19UCSC Ensembl
chr12:20365145..20365146hg18UCSC Ensembl
Innerchr12:20365168..20365123hg18UCSC Ensembl
Outerchr12:20365122..20365169hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38293
hg19293
hg18293
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307108
Supporting Variants
SamplesNA12234
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7764850
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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