A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663012



Internal ID9929117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45751534..45752919hg38UCSC Ensembl
chr19:46254792..46256177hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381386
hg191386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6487166, essv6496016, essv6250363, essv6062335, essv6286630, essv6384432, essv5754256, essv5955780, essv6152419, essv5753439, essv6278090, essv5818375, essv6189906, essv5855950, essv5773064, essv5646869, essv5719801
SamplesNA19648, NA12842, NA18565, NA19092, NA19057, NA19684, NA12155, NA20798, NA18982, NA18538, NA20524, NA19655, NA12827, NA18945, NA18559, NA19679, NA19004
Known GenesLOC388553
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663012
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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