A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8956954



Internal ID13920358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39753369..39753395hg38UCSC Ensembl
Innerchr12:39753372..39753390hg38UCSC Ensembl
Outerchr12:39753346..39753418hg38UCSC Ensembl
chr12:40147171..40147197hg19UCSC Ensembl
Innerchr12:40147174..40147192hg19UCSC Ensembl
Outerchr12:40147148..40147220hg19UCSC Ensembl
chr12:38433438..38433464hg18UCSC Ensembl
Innerchr12:38433459..38433441hg18UCSC Ensembl
Outerchr12:38433415..38433487hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381167
hg191167
hg181167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3323729
Supporting Variants
SamplesNA18523
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8956954
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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