A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672005



Internal ID9591424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43181868..43183533hg38UCSC Ensembl
chr17:41333885..41335550hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381666
hg191666
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6167458, essv6292918, essv5980946, essv5860561, essv5433135, essv5492339, essv5785776, essv5904571, essv5737076, essv5431925, essv5671731, essv5501783, essv6102643, essv5540216, essv5740020, essv6127261, essv5498905, essv5910770, essv6468030, essv5632101, essv6202142, essv6588331, essv5984505, essv6303103, essv6324837, essv5418080, essv5513818, essv6574028, essv6064703
SamplesNA19393, NA18504, NA19098, NA19920, NA18967, NA19171, NA19201, NA19916, NA20287, NA19404, NA19383, NA18975, NA19707, NA19152, NA18981, NA19461, NA18856, NA19257, NA19469, NA18974, NA19435, NA19144, NA19428, NA19467, NA18501, NA19472, NA18972, NA18522, NA19153
Known GenesNBR1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672005
Frequency
Sample Size1151
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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