A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585100



Internal ID6972624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5971368..5981239hg38UCSC Ensembl
Innerchr1:5971368..5981239hg38UCSC Ensembl
Outerchr1:5971234..5981356hg38UCSC Ensembl
chr1:6031428..6041299hg19UCSC Ensembl
Innerchr1:6031428..6041299hg19UCSC Ensembl
Outerchr1:6031294..6041416hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg389872
hg199872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9845876, essv9845875, essv9845874, essv9845873
SamplesHG00306, HG00182, HG02545, HG02577
Known GenesNPHP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585100
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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