A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664728



Internal ID9930833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9111498..9112088hg38UCSC Ensembl
chr18:9111496..9112086hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38591
hg19591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6402839, essv6091938, essv5727053, essv6300694, essv6581168, essv6163343, essv6481068, essv6059754, essv5927522, essv6325410, essv5898207, essv5433392, essv5480773, essv5698408
SamplesNA19703, NA19920, NA18510, NA19382, NA19404, NA19437, NA19707, NA19403, NA19452, NA19434, NA19380, NA19428, NA19716, NA19116
Known GenesNDUFV2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664728
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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