A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8958895



Internal ID13742394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92285755..92285849hg38UCSC Ensembl
Innerchr12:92285799..92285803hg38UCSC Ensembl
Outerchr12:92285709..92285893hg38UCSC Ensembl
chr12:92679531..92679625hg19UCSC Ensembl
Innerchr12:92679575..92679579hg19UCSC Ensembl
Outerchr12:92679485..92679669hg19UCSC Ensembl
chr12:91203662..91203756hg18UCSC Ensembl
Innerchr12:91203706..91203710hg18UCSC Ensembl
Outerchr12:91203616..91203800hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38193
hg19193
hg18193
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3407947
Supporting Variants
SamplesNA18486
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8958895
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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