A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13169144



Internal ID3170960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38389810..38391640hg38UCSC Ensembl
Innerchr8:38389846..38391605hg38UCSC Ensembl
Outerchr8:38389775..38391676hg38UCSC Ensembl
chr8:38247328..38249158hg19UCSC Ensembl
Innerchr8:38247364..38249123hg19UCSC Ensembl
Outerchr8:38247293..38249194hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg381831
hg191831
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616924
Supporting Variants
SamplesHG01765
Known GenesLETM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13169144
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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