A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672635



Internal ID9592054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17884328..17885037hg38UCSC Ensembl
chr19:17995137..17995846hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38710
hg19710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5698283, essv6546689, essv6360934, essv5586058, essv6115349, essv5941495, essv6054535, essv6531342, essv5401665, essv5764406, essv5569393, essv5482292
SamplesNA19355, NA19098, NA19372, NA19371, NA19209, NA18907, NA19625, NA19835, NA18501, NA18505, NA18968, HG00553
Known GenesSLC5A5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672635
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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