A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586872



Internal ID6972043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96925198..96929965hg38UCSC Ensembl
Innerchr1:96925698..96929465hg38UCSC Ensembl
Outerchr1:96924198..96930965hg38UCSC Ensembl
chr1:97390754..97395521hg19UCSC Ensembl
Innerchr1:97391254..97395021hg19UCSC Ensembl
Outerchr1:97389754..97396521hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg384768
hg194768
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10025335, essv10025336, essv10025334, essv10025338, essv10025337, essv10025339, essv10025333
SamplesHG02603, HG03826, HG04054, NA21094, HG04141, HG03922, NA20908
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586872
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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