A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv69e214



Internal ID22755963
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 Variants
Supporting Variantsesv3588263, esv3588267
SamplesHG00608, NA20878, NA20896, NA18640, NA18553, HG02601, HG02184, HG03973
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv69e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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