A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9659091



Internal ID13068092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95195681..95195700hg38UCSC Ensembl
Innerchr12:95195677..95195704hg38UCSC Ensembl
Outerchr12:95195658..95195723hg38UCSC Ensembl
chr12:95589457..95589476hg19UCSC Ensembl
Innerchr12:95589453..95589480hg19UCSC Ensembl
Outerchr12:95589434..95589499hg19UCSC Ensembl
chr12:94113588..94113607hg18UCSC Ensembl
Innerchr12:94113611..94113584hg18UCSC Ensembl
Outerchr12:94113565..94113630hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3396190
Supporting Variants
SamplesNA07346
Known GenesFGD6
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9659091
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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