A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9660580



Internal ID14911960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37866969..37866988hg38UCSC Ensembl
Innerchr13:37866965..37866992hg38UCSC Ensembl
Outerchr13:37866946..37867011hg38UCSC Ensembl
chr13:38441106..38441125hg19UCSC Ensembl
Innerchr13:38441102..38441129hg19UCSC Ensembl
Outerchr13:38441083..38441148hg19UCSC Ensembl
chr13:37339106..37339125hg18UCSC Ensembl
Innerchr13:37339129..37339102hg18UCSC Ensembl
Outerchr13:37339083..37339148hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3435362
Supporting Variants
SamplesNA19143
Known GenesTRPC4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9660580
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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