A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428231



Internal ID15275187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97026285..97026304hg38UCSC Ensembl
Innerchr12:97026281..97026308hg38UCSC Ensembl
Outerchr12:97026262..97026327hg38UCSC Ensembl
chr12:97420063..97420082hg19UCSC Ensembl
Innerchr12:97420059..97420086hg19UCSC Ensembl
Outerchr12:97420040..97420105hg19UCSC Ensembl
chr12:95944194..95944213hg18UCSC Ensembl
Innerchr12:95944217..95944190hg18UCSC Ensembl
Outerchr12:95944171..95944236hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9659236
SamplesNA18970
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428231
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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