A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618918



Internal ID7005800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:135187667..135189200hg38UCSC Ensembl
Innerchr8:135187667..135189200hg38UCSC Ensembl
Outerchr8:135187487..135189393hg38UCSC Ensembl
chr8:136199910..136201443hg19UCSC Ensembl
Innerchr8:136199910..136201443hg19UCSC Ensembl
Outerchr8:136199730..136201636hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381534
hg191534
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13338833
SamplesHG04229
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618918
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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