A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13338802



Internal ID3340618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134479171..134484120hg38UCSC Ensembl
Innerchr8:134479171..134484120hg38UCSC Ensembl
Outerchr8:134478671..134484620hg38UCSC Ensembl
chr8:135491414..135496363hg19UCSC Ensembl
Innerchr8:135491414..135496363hg19UCSC Ensembl
Outerchr8:135490914..135496863hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg384950
hg194950
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618908
Supporting Variants
SamplesNA12751
Known GenesZFAT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13338802
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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