A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588076



Internal ID6975500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181069034..181069808hg38UCSC Ensembl
Innerchr1:181069039..181069803hg38UCSC Ensembl
Outerchr1:181069029..181069813hg38UCSC Ensembl
chr1:181038170..181038944hg19UCSC Ensembl
Innerchr1:181038175..181038939hg19UCSC Ensembl
Outerchr1:181038165..181038949hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38775
hg19775
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10204118, essv10204120, essv10204110, essv10204115, essv10204111, essv10204109, essv10204116, essv10204117, essv10204107, essv10204112, essv10204105, essv10204119, essv10204114, essv10204113, essv10204106, essv10204108
SamplesNA19028, NA20853, NA21089, HG03965, HG03722, NA21130, NA21103, NA19385, HG04225, HG03007, NA19031, HG04159, HG04200, NA20870, NA19713, HG03698
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588076
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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