A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13321324



Internal ID1443717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127255627..127259551hg38UCSC Ensembl
Innerchr8:127255627..127259551hg38UCSC Ensembl
Outerchr8:127255455..127259776hg38UCSC Ensembl
chr8:128267872..128271796hg19UCSC Ensembl
Innerchr8:128267872..128271796hg19UCSC Ensembl
Outerchr8:128267700..128272021hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383925
hg193925
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618770
Supporting Variants
SamplesHG01334
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13321324
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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