A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843398



Internal ID13622418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13152465..13152465hg38UCSC Ensembl
chr18:13152464..13152464hg19UCSC Ensembl
chr18:13142464..13142464hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3896
hg1996
hg1896
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310467
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
AnalysisCortex de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843398
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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