A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13301433



Internal ID6591307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117995550..118000403hg38UCSC Ensembl
Innerchr8:117995550..118000403hg38UCSC Ensembl
Outerchr8:117995311..118000666hg38UCSC Ensembl
chr8:119007789..119012642hg19UCSC Ensembl
Innerchr8:119007789..119012642hg19UCSC Ensembl
Outerchr8:119007550..119012905hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg384854
hg194854
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618565
Supporting Variants
SamplesNA20768
Known GenesEXT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13301433
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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