A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665888



Internal ID9585307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3560160..3561968hg38UCSC Ensembl
chr18:3560158..3561966hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381809
hg191809
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6311343, essv6082986, essv5442650, essv6379017, essv6312521, essv5755703, essv6115082, essv5716470, essv5398048, essv6222781, essv5572478, essv6006739, essv5743243, essv6486471, essv5887109
SamplesNA19909, NA19350, NA19379, NA19448, NA19130, NA19456, NA19921, HG01107, NA19375, NA19256, NA19434, HG00734, NA19444, NA19248, NA19900
Known GenesDLGAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665888
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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