A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13192268



Internal ID4336169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47498059..47507847hg38UCSC Ensembl
Innerchr8:47498076..47507831hg38UCSC Ensembl
Outerchr8:47498043..47507864hg38UCSC Ensembl
chr8:48410621..48420409hg19UCSC Ensembl
Innerchr8:48410638..48420393hg19UCSC Ensembl
Outerchr8:48410605..48420426hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg389789
hg199789
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617095
Supporting Variants
SamplesHG03875
Known GenesSPIDR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13192268
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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