A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13223864



Internal ID4140871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:71657526..71662428hg38UCSC Ensembl
Innerchr8:71657540..71662414hg38UCSC Ensembl
Outerchr8:71657512..71662442hg38UCSC Ensembl
chr8:72569761..72574663hg19UCSC Ensembl
Innerchr8:72569775..72574649hg19UCSC Ensembl
Outerchr8:72569747..72574677hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg384903
hg194903
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617599
Supporting Variants
SamplesHG03752
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13223864
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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