A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6095035



Internal ID9676588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:166591491..166591494hg38UCSC Ensembl
Outerchr2:166591337..166591644hg38UCSC Ensembl
Innerchr2:167448004..167448001hg19UCSC Ensembl
Outerchr2:167447847..167448154hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2664540
Supporting Variants
SamplesNA19428
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6095035
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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