A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6590109



Internal ID9567512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:152603509..152604672hg38UCSC Ensembl
Outerchr2:152603472..152604722hg38UCSC Ensembl
Innerchr2:153460023..153461186hg19UCSC Ensembl
Outerchr2:153459986..153461236hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg381251
hg191251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665352
Supporting Variants
SamplesHG00418
Known GenesFMNL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6590109
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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