A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3433446



Internal ID15280401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124671053..124673251hg38UCSC Ensembl
Innerchr12:124672053..124672251hg38UCSC Ensembl
Outerchr12:124670053..124674251hg38UCSC Ensembl
chr12:125155599..125157797hg19UCSC Ensembl
Innerchr12:125156599..125156797hg19UCSC Ensembl
Outerchr12:125154599..125158797hg19UCSC Ensembl
chr12:123721552..123723750hg18UCSC Ensembl
Innerchr12:123722552..123722750hg18UCSC Ensembl
Outerchr12:123720552..123724750hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688581
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3433446
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer