A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9654947



Internal ID14565490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1327208..1327227hg38UCSC Ensembl
Innerchr12:1327204..1327231hg38UCSC Ensembl
Outerchr12:1327185..1327250hg38UCSC Ensembl
chr12:1436374..1436393hg19UCSC Ensembl
Innerchr12:1436370..1436397hg19UCSC Ensembl
Outerchr12:1436351..1436416hg19UCSC Ensembl
chr12:1306635..1306654hg18UCSC Ensembl
Innerchr12:1306658..1306631hg18UCSC Ensembl
Outerchr12:1306612..1306677hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3401754
Supporting Variants
SamplesNA19143
Known GenesERC1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9654947
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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