A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671243



Internal ID9937348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32334259..32335569hg38UCSC Ensembl
chr5:32334365..32335675hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381311
hg191311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6464605, essv6180813
SamplesNA19395, NA19900
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671243
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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