A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585777



Internal ID6973298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38967350..38975206hg38UCSC Ensembl
Innerchr1:38967367..38975189hg38UCSC Ensembl
Outerchr1:38967333..38975223hg38UCSC Ensembl
chr1:39433022..39440878hg19UCSC Ensembl
Innerchr1:39433039..39440861hg19UCSC Ensembl
Outerchr1:39433005..39440895hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg387857
hg197857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9915266, essv9915267, essv9915272, essv9915271, essv9915268, essv9915263, essv9915265, essv9915270, essv9915269, essv9915264
SamplesNA18502, HG02318, HG02012, HG03190, NA18915, NA18907, HG03136, HG03103, NA18501, HG03077
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585777
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer