A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6252268



Internal ID9707342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:122918668..123008055hg38UCSC Ensembl
Outerchr2:122918631..123008105hg38UCSC Ensembl
Innerchr2:123676244..123765631hg19UCSC Ensembl
Outerchr2:123676207..123765681hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3889475
hg1989475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659525
Supporting Variants
SamplesNA19457
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6252268
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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