A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671814



Internal ID9937919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51005429..51007664hg38UCSC Ensembl
chr19:51508685..51510920hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg382236
hg192236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5538669, essv5453321, essv6562816, essv5803783, essv5592455, essv5648159
SamplesNA12399, HG00337, HG00731, HG00273, HG01148, HG00366
Known GenesKLK9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671814
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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