A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5643092



Internal ID8833947
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 Flag1
Merged StatusS
Merged Variantsesv2657830
Supporting Variants
SamplesHG00273
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5643092
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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