A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6244232



Internal ID8979114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120669737..120670512hg38UCSC Ensembl
chr2:121427313..121428088hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38776
hg19776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2672359
Supporting Variants
SamplesHG00560
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6244232
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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