A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3405542



Internal ID15252504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97132610..97132628hg38UCSC Ensembl
Innerchr12:97132612..97132624hg38UCSC Ensembl
Outerchr12:97132594..97132642hg38UCSC Ensembl
chr12:97526388..97526406hg19UCSC Ensembl
Innerchr12:97526390..97526402hg19UCSC Ensembl
Outerchr12:97526372..97526420hg19UCSC Ensembl
chr12:96050519..96050537hg18UCSC Ensembl
Innerchr12:96050533..96050521hg18UCSC Ensembl
Outerchr12:96050503..96050551hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8958996, essv8958991, essv8958989, essv8958988, essv8958986, essv8958995, essv8958994, essv8958998, essv8958993, essv8958997, essv8958987, essv8958990
SamplesNA18980, NA12750, NA07346, NA18944, NA11992, NA11918, NA12828, NA18638, NA18605, NA12716, NA12763, NA06986
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3405542
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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