A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8672649



Internal ID13736006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50719593..50719627hg38UCSC Ensembl
Innerchr13:50719607..50719611hg38UCSC Ensembl
Outerchr13:50719577..50719641hg38UCSC Ensembl
chr13:51293729..51293763hg19UCSC Ensembl
Innerchr13:51293743..51293747hg19UCSC Ensembl
Outerchr13:51293713..51293777hg19UCSC Ensembl
chr13:50191730..50191764hg18UCSC Ensembl
Innerchr13:50191744..50191748hg18UCSC Ensembl
Outerchr13:50191714..50191778hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38225
hg19225
hg18225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3335461
Supporting Variants
SamplesNA12892
Known GenesDLEU7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8672649
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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