A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663330



Internal ID9929435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44388193..44434570hg38UCSC Ensembl
chr19:44892355..44938745hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3846378
hg1946391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5688340, essv6297523, essv6034363, essv6569565
SamplesNA19315, NA18874, NA19159, NA18858
Known GenesZNF229, ZNF285
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663330
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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