A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669844



Internal ID9935949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:15144923..15147923hg38UCSC Ensembl
chr2:15285047..15288047hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg383001
hg193001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6167565, essv6163193, essv6439604
SamplesNA19098, NA18871, NA19093
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669844
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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