A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6181309



Internal ID9158712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230460579..230460922hg38UCSC Ensembl
chr2:231325294..231325637hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666499
Supporting Variants
SamplesNA20334
Known GenesSP100
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6181309
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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