A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10798752



Internal ID2240808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190445170..190448074hg38UCSC Ensembl
Innerchr2:190445170..190448074hg38UCSC Ensembl
Outerchr2:190445159..190448131hg38UCSC Ensembl
chr2:191309896..191312800hg19UCSC Ensembl
Innerchr2:191309896..191312800hg19UCSC Ensembl
Outerchr2:191309885..191312857hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg382905
hg192905
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593755
Supporting Variants
SamplesHG02010
Known GenesMFSD6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10798752
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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