A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8817745



Internal ID13339895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14202459..14202459hg38UCSC Ensembl
Innerchr16:14202458..14202460hg38UCSC Ensembl
Outerchr16:14202399..14202509hg38UCSC Ensembl
chr16:14296316..14296316hg19UCSC Ensembl
Innerchr16:14296315..14296317hg19UCSC Ensembl
Outerchr16:14296256..14296366hg19UCSC Ensembl
chr16:14203817..14203817hg18UCSC Ensembl
Innerchr16:14203818..14203816hg18UCSC Ensembl
Outerchr16:14203757..14203867hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3435206
Supporting Variants
SamplesNA12878
Known GenesMKL2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8817745
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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