A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7798009



Internal ID13461695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:60793260..60793261hg38UCSC Ensembl
Innerchr13:60793243..60793278hg38UCSC Ensembl
Outerchr13:60793242..60793279hg38UCSC Ensembl
chr13:61367394..61367395hg19UCSC Ensembl
Innerchr13:61367377..61367412hg19UCSC Ensembl
Outerchr13:61367376..61367413hg19UCSC Ensembl
chr13:60265395..60265396hg18UCSC Ensembl
Innerchr13:60265413..60265378hg18UCSC Ensembl
Outerchr13:60265377..60265414hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg38293
hg19293
hg18293
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303480
Supporting Variants
SamplesNA12414
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7798009
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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