A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588821



Internal ID6629112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216038934..216042752hg38UCSC Ensembl
Innerchr1:216038958..216042729hg38UCSC Ensembl
Outerchr1:216038911..216042776hg38UCSC Ensembl
chr1:216212276..216216094hg19UCSC Ensembl
Innerchr1:216212300..216216071hg19UCSC Ensembl
Outerchr1:216212253..216216118hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383819
hg193819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10293157
SamplesHG01817
Known GenesUSH2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588821
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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