A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694593



Internal ID15013495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14346943..14347441hg38UCSC Ensembl
Innerchr5:14346942..14347442hg38UCSC Ensembl
Outerchr5:14345943..14348441hg38UCSC Ensembl
chr5:14347052..14347550hg19UCSC Ensembl
Innerchr5:14347051..14347551hg19UCSC Ensembl
Outerchr5:14346052..14348550hg19UCSC Ensembl
chr5:14400052..14400550hg18UCSC Ensembl
Innerchr5:14400551..14400051hg18UCSC Ensembl
Outerchr5:14399052..14401550hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3329343
Supporting Variants
SamplesNA19238
Known GenesTRIO
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694593
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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