A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13310760



Internal ID6920708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124138068..124143036hg38UCSC Ensembl
Innerchr8:124138070..124143035hg38UCSC Ensembl
Outerchr8:124138067..124143038hg38UCSC Ensembl
chr8:125150309..125155277hg19UCSC Ensembl
Innerchr8:125150311..125155276hg19UCSC Ensembl
Outerchr8:125150308..125155279hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg384969
hg194969
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618684
Supporting Variants
SamplesNA21117
Known GenesFER1L6-AS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13310760
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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