A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674178



Internal ID9940283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186464229..186465324hg38UCSC Ensembl
chr3:186182018..186183113hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg381096
hg191096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6390500, essv6108082, essv6253130, essv5573055, essv6549621, essv6430922, essv6288057, essv6039468, essv6269561, essv5693853, essv6563968
SamplesNA19397, NA18489, NA19457, NA19917, NA19471, NA19462, NA18499, NA20281, NA19223, NA19713, NA19463
Known GenesLOC253573
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674178
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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