A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10805162



Internal ID2112480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:192106765..192116435hg38UCSC Ensembl
Innerchr2:192106765..192116435hg38UCSC Ensembl
Outerchr2:192106265..192116935hg38UCSC Ensembl
chr2:192971491..192981161hg19UCSC Ensembl
Innerchr2:192971491..192981161hg19UCSC Ensembl
Outerchr2:192970991..192981661hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg389671
hg199671
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593780
Supporting Variants
SamplesHG01921
Known GenesTMEFF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10805162
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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