A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676311



Internal ID9595730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96838203..96838763hg38UCSC Ensembl
chr13:97490457..97491017hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6033314, essv5429292, essv5777368
SamplesHG00188, HG00339, HG00372
Known GenesHS6ST3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676311
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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