A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593706



Internal ID6981029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188090598..188131194hg38UCSC Ensembl
chr2:188955325..188995921hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3840597
hg1940597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv756e214
Supporting Variantsessv10791837, essv10791838
SamplesHG03781, NA20534
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593706
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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