A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588772



Internal ID6976188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213442816..213444195hg38UCSC Ensembl
Innerchr1:213442816..213444195hg38UCSC Ensembl
Outerchr1:213442748..213444283hg38UCSC Ensembl
chr1:213616159..213617538hg19UCSC Ensembl
Innerchr1:213616159..213617538hg19UCSC Ensembl
Outerchr1:213616091..213617626hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381380
hg191380
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10291249, essv10291257, essv10291250, essv10291253, essv10291255, essv10291256, essv10291248, essv10291252, essv10291254, essv10291251
SamplesNA20508, HG04094, HG03640, HG03777, HG00245, HG03967, HG03824, HG03971, HG03720, HG03973
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588772
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