A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13178099



Internal ID3179915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40817199..40825371hg38UCSC Ensembl
Innerchr8:40817206..40825365hg38UCSC Ensembl
Outerchr8:40817193..40825378hg38UCSC Ensembl
chr8:40674718..40682890hg19UCSC Ensembl
Innerchr8:40674725..40682884hg19UCSC Ensembl
Outerchr8:40674712..40682897hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg388173
hg198173
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616977
Supporting Variants
SamplesHG03058
Known GenesZMAT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13178099
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