A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8964251



Internal ID13869315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:109175800..109175859hg38UCSC Ensembl
Innerchr13:109175802..109175857hg38UCSC Ensembl
Outerchr13:109175743..109175916hg38UCSC Ensembl
chr13:109828148..109828207hg19UCSC Ensembl
Innerchr13:109828150..109828205hg19UCSC Ensembl
Outerchr13:109828091..109828264hg19UCSC Ensembl
chr13:108626149..108626208hg18UCSC Ensembl
Innerchr13:108626206..108626151hg18UCSC Ensembl
Outerchr13:108626092..108626265hg18UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38234
hg19234
hg18234
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3397426
Supporting Variants
SamplesNA18517
Known GenesMYO16
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8964251
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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