A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587575



Internal ID6627877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153096350..153114772hg38UCSC Ensembl
chr1:153068826..153087248hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3818423
hg1918423
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10149432, essv10149434, essv10149436, essv10149435, essv10149433, essv10149431
SamplesNA20274, NA19190, NA18489, HG03291, NA19625, HG03103
Known GenesSPRR2F
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587575
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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