A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588136



Internal ID6975560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185447212..185449469hg38UCSC Ensembl
Innerchr1:185447215..185449466hg38UCSC Ensembl
Outerchr1:185447209..185449472hg38UCSC Ensembl
chr1:185416344..185418601hg19UCSC Ensembl
Innerchr1:185416347..185418598hg19UCSC Ensembl
Outerchr1:185416341..185418604hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg382258
hg192258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10211728, essv10211737, essv10211726, essv10211734, essv10211730, essv10211739, essv10211735, essv10211738, essv10211733, essv10211740, essv10211732, essv10211727, essv10211731, essv10211729, essv10211736
SamplesNA20531, HG01486, NA20589, NA20541, HG03693, NA19670, NA12872, NA19717, HG00263, HG00740, HG01414, HG04063, NA12546, NA19679, NA21104
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588136
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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