A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13267710



Internal ID957231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100558493..100558954hg38UCSC Ensembl
Innerchr8:100558497..100558951hg38UCSC Ensembl
Outerchr8:100558490..100558958hg38UCSC Ensembl
chr8:101570721..101571182hg19UCSC Ensembl
Innerchr8:101570725..101571179hg19UCSC Ensembl
Outerchr8:101570718..101571186hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618191
Supporting Variants
SamplesHG00589
Known GenesANKRD46
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13267710
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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