A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13219276



Internal ID6277133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70090414..70091961hg38UCSC Ensembl
Innerchr8:70090430..70091946hg38UCSC Ensembl
Outerchr8:70090399..70091977hg38UCSC Ensembl
chr8:71002649..71004196hg19UCSC Ensembl
Innerchr8:71002665..71004181hg19UCSC Ensembl
Outerchr8:71002634..71004212hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg381548
hg191548
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617562
Supporting Variants
SamplesNA19794
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13219276
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