A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689944



Internal ID14709126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29516730..29536228hg38UCSC Ensembl
Innerchr16:29517730..29535228hg38UCSC Ensembl
Outerchr16:29515730..29537228hg38UCSC Ensembl
chr16:29528051..29547549hg19UCSC Ensembl
Innerchr16:29529051..29546549hg19UCSC Ensembl
Outerchr16:29527051..29548549hg19UCSC Ensembl
chr16:29435552..29455050hg18UCSC Ensembl
Innerchr16:29436552..29454050hg18UCSC Ensembl
Outerchr16:29434552..29456050hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3819499
hg1919499
hg1819499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3368598
Supporting Variants
SamplesNA19239
Known GenesLOC440354
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689944
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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