A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665942



Internal ID9932047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44340603..44345351hg38UCSC Ensembl
chr3:44382095..44386843hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384749
hg194749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv859e199
Supporting Variantsessv5445063, essv6556374, essv5712477, essv6282639, essv5589735
SamplesHG00448, NA19054, NA18538, HG00525, HG00628
Known GenesTCAIM
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665942
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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