A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690311



Internal ID13655497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:34942180..34962678hg38UCSC Ensembl
Innerchr16:34943180..34961678hg38UCSC Ensembl
Outerchr16:34941180..34963678hg38UCSC Ensembl
chr16:34176551..34197049hg19UCSC Ensembl
Innerchr16:34177551..34196049hg19UCSC Ensembl
Outerchr16:34175551..34198049hg19UCSC Ensembl
chr16:34034052..34054550hg18UCSC Ensembl
Innerchr16:34035052..34053550hg18UCSC Ensembl
Outerchr16:34033052..34055550hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3820499
hg1920499
hg1820499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3409991
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690311
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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