A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8672641



Internal ID14718889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49383744..49383799hg38UCSC Ensembl
Innerchr13:49383758..49383785hg38UCSC Ensembl
Outerchr13:49383703..49383840hg38UCSC Ensembl
chr13:49957880..49957935hg19UCSC Ensembl
Innerchr13:49957894..49957921hg19UCSC Ensembl
Outerchr13:49957839..49957976hg19UCSC Ensembl
chr13:48855881..48855936hg18UCSC Ensembl
Innerchr13:48855922..48855895hg18UCSC Ensembl
Outerchr13:48855840..48855977hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3878
hg1978
hg1878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3339499
Supporting Variants
SamplesNA19239
Known GenesCAB39L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8672641
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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