A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657830



Internal ID9923935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:173291172..173344326hg38UCSC Ensembl
Outerchr2:173291135..173344376hg38UCSC Ensembl
Innerchr2:174155900..174209054hg19UCSC Ensembl
Outerchr2:174155863..174209104hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3853242
hg1953242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5643092
SamplesHG00273
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657830
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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