A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11029361



Internal ID4649420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:64705007..64708029hg38UCSC Ensembl
Innerchr3:64705017..64708019hg38UCSC Ensembl
Outerchr3:64704997..64708039hg38UCSC Ensembl
chr3:64690683..64693705hg19UCSC Ensembl
Innerchr3:64690693..64693695hg19UCSC Ensembl
Outerchr3:64690673..64693715hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg383023
hg193023
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596410
Supporting Variants
SamplesHG04180
Known GenesADAMTS9-AS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11029361
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