A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6049956



Internal ID9027359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:199314421..199318770hg38UCSC Ensembl
Outerchr2:199314264..199318923hg38UCSC Ensembl
Innerchr2:200179144..200183493hg19UCSC Ensembl
Outerchr2:200178987..200183646hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg384660
hg194660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661101
Supporting Variants
SamplesNA18517
Known GenesSATB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6049956
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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