A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5926458



Internal ID8722557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:120300930..120310003hg38UCSC Ensembl
Outerchr2:120300893..120310053hg38UCSC Ensembl
Innerchr2:121058506..121067579hg19UCSC Ensembl
Outerchr2:121058469..121067629hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg389161
hg199161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669900
Supporting Variants
SamplesHG00106
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5926458
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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