A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8962107



Internal ID13215811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78010525..78010535hg38UCSC Ensembl
Innerchr13:78010517..78010543hg38UCSC Ensembl
Outerchr13:78010504..78010553hg38UCSC Ensembl
chr13:78584660..78584670hg19UCSC Ensembl
Innerchr13:78584652..78584678hg19UCSC Ensembl
Outerchr13:78584639..78584688hg19UCSC Ensembl
chr13:77482661..77482671hg18UCSC Ensembl
Innerchr13:77482679..77482653hg18UCSC Ensembl
Outerchr13:77482640..77482689hg18UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3356338
Supporting Variants
SamplesNA11920
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8962107
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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