A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740757



Internal ID14736608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42084386..42084881hg38UCSC Ensembl
Innerchr12:42084436..42084831hg38UCSC Ensembl
Outerchr12:42084336..42084931hg38UCSC Ensembl
chr12:42478188..42478683hg19UCSC Ensembl
Innerchr12:42478238..42478633hg19UCSC Ensembl
Outerchr12:42478138..42478733hg19UCSC Ensembl
chr12:40764455..40764950hg18UCSC Ensembl
Innerchr12:40764505..40764900hg18UCSC Ensembl
Outerchr12:40764405..40765000hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38496
hg19496
hg18496
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3410033
Supporting Variants
SamplesNA19240
Known GenesGXYLT1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740757
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