A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9659558



Internal ID13619444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105437107..105437126hg38UCSC Ensembl
Innerchr12:105437103..105437130hg38UCSC Ensembl
Outerchr12:105437084..105437149hg38UCSC Ensembl
chr12:105830885..105830904hg19UCSC Ensembl
Innerchr12:105830881..105830908hg19UCSC Ensembl
Outerchr12:105830862..105830927hg19UCSC Ensembl
chr12:104355015..104355034hg18UCSC Ensembl
Innerchr12:104355038..104355011hg18UCSC Ensembl
Outerchr12:104354992..104355057hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3410977
Supporting Variants
SamplesNA12874
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9659558
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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