A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8968212



Internal ID15001458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:47470397..47470409hg38UCSC Ensembl
Innerchr15:47470388..47470415hg38UCSC Ensembl
Outerchr15:47470376..47470427hg38UCSC Ensembl
chr15:47762594..47762606hg19UCSC Ensembl
Innerchr15:47762585..47762612hg19UCSC Ensembl
Outerchr15:47762573..47762624hg19UCSC Ensembl
chr15:45549886..45549898hg18UCSC Ensembl
Innerchr15:45549904..45549877hg18UCSC Ensembl
Outerchr15:45549865..45549916hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38273
hg19273
hg18273
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3326619
Supporting Variants
SamplesNA19225
Known GenesSEMA6D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8968212
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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