A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5856057



Internal ID9066551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176747490..176749477hg38UCSC Ensembl
chr2:177612218..177614205hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381988
hg191988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672675
Supporting Variants
SamplesHG00734
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5856057
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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