A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662395



Internal ID9581814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11931668..11932389hg38UCSC Ensembl
chr19:12042483..12043204hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38722
hg19722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6202944, essv6484572, essv6140291, essv6474290, essv6415619
SamplesNA11995, HG01079, HG00737, HG01197, NA19780
Known GenesZNF700
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662395
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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