A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13203719



Internal ID4297707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55005829..55014541hg38UCSC Ensembl
Innerchr8:55005853..55014518hg38UCSC Ensembl
Outerchr8:55005806..55014565hg38UCSC Ensembl
chr8:55918389..55927101hg19UCSC Ensembl
Innerchr8:55918413..55927078hg19UCSC Ensembl
Outerchr8:55918366..55927125hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg388713
hg198713
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617268
Supporting Variants
SamplesHG03857
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13203719
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