A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9676769



Internal ID13164906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62857284..62857303hg38UCSC Ensembl
Innerchr18:62857280..62857307hg38UCSC Ensembl
Outerchr18:62857261..62857326hg38UCSC Ensembl
chr18:60524517..60524536hg19UCSC Ensembl
Innerchr18:60524513..60524540hg19UCSC Ensembl
Outerchr18:60524494..60524559hg19UCSC Ensembl
chr18:58675497..58675516hg18UCSC Ensembl
Innerchr18:58675520..58675493hg18UCSC Ensembl
Outerchr18:58675474..58675539hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3447821
Supporting Variants
SamplesNA11840
Known GenesPHLPP1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9676769
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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