A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11185945



Internal ID1187761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151745783..151757962hg38UCSC Ensembl
Innerchr3:151745783..151757962hg38UCSC Ensembl
Outerchr3:151745569..151758159hg38UCSC Ensembl
chr3:151463571..151475750hg19UCSC Ensembl
Innerchr3:151463571..151475750hg19UCSC Ensembl
Outerchr3:151463357..151475947hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3812180
hg1912180
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598186
Supporting Variants
SamplesHG03950
Known GenesAADACL2, MIR548H2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11185945
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