A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651891



Internal ID14753731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:95025062..95025597hg38UCSC Ensembl
Innerchr13:95025062..95025597hg38UCSC Ensembl
Outerchr13:95025039..95025921hg38UCSC Ensembl
chr13:95677316..95677851hg19UCSC Ensembl
Innerchr13:95677316..95677851hg19UCSC Ensembl
Outerchr13:95677293..95678175hg19UCSC Ensembl
chr13:94475317..94475852hg18UCSC Ensembl
Innerchr13:94475317..94475852hg18UCSC Ensembl
Outerchr13:94475294..94476176hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38536
hg19536
hg18536
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3432022
Supporting Variants
SamplesNA19240
Known GenesABCC4
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651891
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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