A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13310752



Internal ID785529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124136432..124138277hg38UCSC Ensembl
Innerchr8:124136438..124138272hg38UCSC Ensembl
Outerchr8:124136427..124138283hg38UCSC Ensembl
chr8:125148673..125150518hg19UCSC Ensembl
Innerchr8:125148679..125150513hg19UCSC Ensembl
Outerchr8:125148668..125150524hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381846
hg191846
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618683
Supporting Variants
SamplesHG00372
Known GenesFER1L6-AS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13310752
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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