A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587830



Internal ID6975254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166565302..166613377hg38UCSC Ensembl
Innerchr1:166565323..166613357hg38UCSC Ensembl
Outerchr1:166565282..166613398hg38UCSC Ensembl
chr1:166534539..166582614hg19UCSC Ensembl
Innerchr1:166534560..166582594hg19UCSC Ensembl
Outerchr1:166534519..166582635hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg3848076
hg1948076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10180926, essv10180922, essv10180921, essv10180923, essv10180924, essv10180925, essv10180920
SamplesHG03911, NA20889, HG04047, HG03854, HG03672, HG03790, NA21144
Known GenesFMO9P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587830
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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