A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668034



Internal ID9934139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128046645..128047644hg38UCSC Ensembl
chr2:128804219..128805218hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6067268, essv5648168
SamplesNA19818, NA19713
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668034
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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