A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8672570



Internal ID15065188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28837956..28837966hg38UCSC Ensembl
Innerchr13:28837948..28837972hg38UCSC Ensembl
Outerchr13:28837938..28837982hg38UCSC Ensembl
chr13:29412093..29412103hg19UCSC Ensembl
Innerchr13:29412085..29412109hg19UCSC Ensembl
Outerchr13:29412075..29412119hg19UCSC Ensembl
chr13:28310093..28310103hg18UCSC Ensembl
Innerchr13:28310109..28310085hg18UCSC Ensembl
Outerchr13:28310075..28310119hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3390267
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8672570
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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