A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651863



Internal ID15100208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102694434..102694521hg38UCSC Ensembl
Innerchr13:102694434..102694521hg38UCSC Ensembl
Outerchr13:102693742..102695216hg38UCSC Ensembl
chr13:103346784..103346871hg19UCSC Ensembl
Innerchr13:103346784..103346871hg19UCSC Ensembl
Outerchr13:103346092..103347566hg19UCSC Ensembl
chr13:102144785..102144872hg18UCSC Ensembl
Innerchr13:102144785..102144872hg18UCSC Ensembl
Outerchr13:102144093..102145567hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3888
hg1988
hg1888
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3330097
Supporting Variants
SamplesNA19240
Known GenesMETTL21C
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651863
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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