A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673992



Internal ID9593411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2820721..2821723hg38UCSC Ensembl
chr19:2820719..2821721hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381003
hg191003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5817688, essv5738193, essv5566524, essv6075312, essv6218699, essv5811242, essv6035828, essv5924595
SamplesNA19909, NA19385, NA19437, NA19462, NA18910, NA19834, NA19468, NA18620
Known GenesZNF554
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673992
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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