A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618684



Internal ID7005566
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13310758, essv13310760, essv13310756, essv13310761, essv13310757, essv13310754, essv13310755, essv13310759
SamplesNA21110, HG03796, NA21129, HG03771, NA20876, NA21117, HG03977, HG03022
Known GenesFER1L6-AS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618684
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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