A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588263



Internal ID6975682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:189562061..189651929hg38UCSC Ensembl
chr1:189531191..189621059hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3889869
hg1989869
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv69e214
Supporting Variantsessv10227408, essv10227409, essv10227410, essv10227407, essv10227406
SamplesNA20878, NA20896, HG02601, HG02184, HG03973
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588263
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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