A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865698



Internal ID12971331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96799786..96799796hg38UCSC Ensembl
Innerchr13:96799788..96799794hg38UCSC Ensembl
Outerchr13:96799784..96799798hg38UCSC Ensembl
chr13:97452040..97452050hg19UCSC Ensembl
Innerchr13:97452042..97452048hg19UCSC Ensembl
Outerchr13:97452038..97452052hg19UCSC Ensembl
chr13:96250041..96250051hg18UCSC Ensembl
Innerchr13:96250043..96250049hg18UCSC Ensembl
Outerchr13:96250039..96250053hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3349216
Supporting Variants
SamplesNA12005
Known GenesHS6ST3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865698
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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