A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689759



Internal ID15054729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:30375057..30376455hg38UCSC Ensembl
Innerchr15:30375455..30376057hg38UCSC Ensembl
Outerchr15:30374057..30377455hg38UCSC Ensembl
chr15:30667260..30668658hg19UCSC Ensembl
Innerchr15:30667658..30668260hg19UCSC Ensembl
Outerchr15:30666260..30669658hg19UCSC Ensembl
chr15:28454552..28455950hg18UCSC Ensembl
Innerchr15:28455552..28454950hg18UCSC Ensembl
Outerchr15:28453552..28456950hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3401885
Supporting Variants
SamplesNA19239
Known GenesCHRFAM7A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689759
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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