A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663095



Internal ID9582514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62624942..62626373hg38UCSC Ensembl
chr3:62610617..62612048hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg381432
hg191432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6166724, essv5491505, essv6327029, essv6212516, essv5548071, essv6517247, essv6261725, essv5417973, essv5586275, essv5573296, essv6049627, essv6165829, essv5786344, essv5877549, essv5615749, essv6452577, essv5569591, essv6132384, essv5474641, essv6275004, essv6136061, essv5958239, essv6097917, essv5408421, essv5439528, essv6454114
SamplesNA19248, NA18523, NA19437, HG01051, NA18507, NA19147, NA20340, NA19914, NA19383, NA18508, NA19239, NA19107, NA19457, NA19213, NA18522, NA18487, NA19376, NA18909, NA19225, NA19399, NA18499, NA19916, NA19470, HG01462, NA19473, NA19439
Known GenesCADPS
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663095
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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