A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8963846



Internal ID14341155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:95861805..95861850hg38UCSC Ensembl
Innerchr13:95861826..95861829hg38UCSC Ensembl
Outerchr13:95861784..95861871hg38UCSC Ensembl
chr13:96514059..96514104hg19UCSC Ensembl
Innerchr13:96514080..96514083hg19UCSC Ensembl
Outerchr13:96514038..96514125hg19UCSC Ensembl
chr13:95312060..95312105hg18UCSC Ensembl
Innerchr13:95312081..95312084hg18UCSC Ensembl
Outerchr13:95312039..95312126hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38273
hg19273
hg18273
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3443482
Supporting Variants
SamplesNA18853
Known GenesUGGT2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8963846
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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