A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10674870



Internal ID2961594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131477920..131527155hg38UCSC Ensembl
chr2:132235493..132284728hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3849236
hg1949236
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592483
Supporting Variants
SamplesHG02614
Known GenesLOC150776, MIR4784, MZT2A, RNU6-81P, TUBA3D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10674870
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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