A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664570



Internal ID9930675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223754556..223755153hg38UCSC Ensembl
chr2:224619273..224619870hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38598
hg19598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6368205, essv5747345, essv5921448, essv6559370, essv5782408
SamplesNA19909, NA18870, NA19313, NA19375, NA19835
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664570
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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