A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9672447



Internal ID12991501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82794352..82794371hg38UCSC Ensembl
Innerchr16:82794348..82794375hg38UCSC Ensembl
Outerchr16:82794329..82794394hg38UCSC Ensembl
chr16:82827957..82827976hg19UCSC Ensembl
Innerchr16:82827953..82827980hg19UCSC Ensembl
Outerchr16:82827934..82827999hg19UCSC Ensembl
chr16:81385458..81385477hg18UCSC Ensembl
Innerchr16:81385481..81385454hg18UCSC Ensembl
Outerchr16:81385435..81385500hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3405118
Supporting Variants
SamplesNA12043
Known GenesCDH13
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9672447
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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