A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587943



Internal ID6975366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173335434..173338832hg38UCSC Ensembl
chr1:173304573..173307971hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg383399
hg193399
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10188529, essv10188527, essv10188528, essv10188531, essv10188526, essv10188530, essv10188525
SamplesNA18558, HG02860, NA19451, NA19077, HG01951, NA19083, NA19085
Known GenesLOC100506023
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587943
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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