A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6400408



Internal ID9451886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127466115..127468248hg38UCSC Ensembl
chr2:128223691..128225824hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382134
hg192134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665972
Supporting Variants
SamplesNA18871
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6400408
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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