A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657871



Internal ID9577290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43012165..43013061hg38UCSC Ensembl
chr3:43053657..43054553hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38897
hg19897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5407954, essv5881078, essv5517730, essv6011505, essv5559347, essv5811348, essv6544584
SamplesNA18861, NA19436, NA19319, NA19398, NA19457, NA19395, NA19711
Known GenesFAM198A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657871
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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