A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9660835



Internal ID13164602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45903130..45903149hg38UCSC Ensembl
Innerchr13:45903126..45903153hg38UCSC Ensembl
Outerchr13:45903107..45903172hg38UCSC Ensembl
chr13:46477265..46477284hg19UCSC Ensembl
Innerchr13:46477261..46477288hg19UCSC Ensembl
Outerchr13:46477242..46477307hg19UCSC Ensembl
chr13:45375266..45375285hg18UCSC Ensembl
Innerchr13:45375289..45375262hg18UCSC Ensembl
Outerchr13:45375243..45375308hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3368523
Supporting Variants
SamplesNA11840
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9660835
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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