A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585775



Internal ID6626090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38935988..38938872hg38UCSC Ensembl
Innerchr1:38935996..38938865hg38UCSC Ensembl
Outerchr1:38935981..38938880hg38UCSC Ensembl
chr1:39401660..39404544hg19UCSC Ensembl
Innerchr1:39401668..39404537hg19UCSC Ensembl
Outerchr1:39401653..39404552hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg382885
hg192885
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9915260
SamplesHG03078
Known GenesRHBDL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585775
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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