A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675791



Internal ID9595210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9752902..9761161hg38UCSC Ensembl
chr19:9863578..9871837hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg388260
hg198260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5456500, essv6174806, essv5861230, essv5502851, essv5448911, essv6344820, essv6439819
SamplesNA19235, NA19456, NA19347, NA19625, NA19712, NA19435, NA19116
Known GenesZNF846
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675791
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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