A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7761428



Internal ID13421162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79637555..79637556hg38UCSC Ensembl
Innerchr12:79637521..79637590hg38UCSC Ensembl
Outerchr12:79637520..79637591hg38UCSC Ensembl
chr12:80031335..80031336hg19UCSC Ensembl
Innerchr12:80031301..80031370hg19UCSC Ensembl
Outerchr12:80031300..80031371hg19UCSC Ensembl
chr12:78555466..78555467hg18UCSC Ensembl
Innerchr12:78555501..78555432hg18UCSC Ensembl
Outerchr12:78555431..78555502hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38193
hg19193
hg18193
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307239
Supporting Variants
SamplesNA18499
Known GenesPAWR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7761428
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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