A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618565



Internal ID7005447
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13301432, essv13301433
SamplesNA20768, NA19676
Known GenesEXT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618565
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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