A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587435



Internal ID6627739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:147189056..147198713hg38UCSC Ensembl
Innerchr1:147189056..147198713hg38UCSC Ensembl
Outerchr1:147188726..147198928hg38UCSC Ensembl
chr1:146660636..146670292hg19UCSC Ensembl
Innerchr1:146660636..146670292hg19UCSC Ensembl
Outerchr1:146660306..146670509hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg389658
hg199657
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10116471, essv10116466, essv10116465, essv10116467, essv10116470, essv10116464, essv10116472, essv10116468, essv10116469
SamplesNA19819, HG02450, HG01085, HG03212, NA19314, NA19096, NA19351, HG03225, HG03547
Known GenesFMO5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587435
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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