A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6426551



Internal ID8911585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207800221..207802349hg38UCSC Ensembl
chr2:208664945..208667073hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382129
hg192129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678382
Supporting Variants
SamplesHG00377
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6426551
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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