A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431510



Internal ID15278466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41192316..41194014hg38UCSC Ensembl
Innerchr13:41193014..41193316hg38UCSC Ensembl
Outerchr13:41191316..41195014hg38UCSC Ensembl
chr13:41766452..41768150hg19UCSC Ensembl
Innerchr13:41767150..41767452hg19UCSC Ensembl
Outerchr13:41765452..41769150hg19UCSC Ensembl
chr13:40664452..40666150hg18UCSC Ensembl
Innerchr13:40665452..40665150hg18UCSC Ensembl
Outerchr13:40663452..40667150hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688950
SamplesNA19239
Known GenesKBTBD7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431510
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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