A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670793



Internal ID9936898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53353576..53383224hg38UCSC Ensembl
chr19:53856829..53886477hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3829649
hg1929649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6204085, essv6584585, essv5578814, essv6487891, essv5818448, essv5659998, essv6492830, essv5461297
SamplesNA20783, HG01488, NA18960, HG01124, NA20299, HG01101, NA19625, HG01061
Known GenesZNF525, ZNF845
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670793
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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