A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13172789



Internal ID6280153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39374486..39430304hg38UCSC Ensembl
Innerchr8:39374486..39430304hg38UCSC Ensembl
Outerchr8:39373986..39430804hg38UCSC Ensembl
chr8:39232005..39287823hg19UCSC Ensembl
Innerchr8:39232005..39287823hg19UCSC Ensembl
Outerchr8:39231505..39288323hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3855819
hg1955819
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616948
Supporting Variants
SamplesNA19795
Known GenesADAM5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13172789
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