A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616977



Internal ID6657173
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13178099, essv13178100
SamplesHG03058, HG03583
Known GenesZMAT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616977
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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