A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5781946



Internal ID9343340
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
SamplesNA18541
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5781946
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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