A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665245



Internal ID9931350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:40848883..40850912hg38UCSC Ensembl
Outerchr5:40848705..40851103hg38UCSC Ensembl
Innerchr5:40848985..40851014hg19UCSC Ensembl
Outerchr5:40848807..40851205hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg382399
hg192399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6341513, essv6533396
SamplesNA18635, HG00525
Known GenesCARD6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665245
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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