A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3362432



Internal ID14862693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:24937866..24937885hg38UCSC Ensembl
Innerchr13:24937862..24937889hg38UCSC Ensembl
Outerchr13:24937843..24937908hg38UCSC Ensembl
chr13:25512004..25512023hg19UCSC Ensembl
Innerchr13:25512000..25512027hg19UCSC Ensembl
Outerchr13:25511981..25512046hg19UCSC Ensembl
chr13:24410004..24410023hg18UCSC Ensembl
Innerchr13:24410027..24410000hg18UCSC Ensembl
Outerchr13:24409981..24410046hg18UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677941
SamplesNA19240
Known GenesTPTE2P1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3362432
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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