A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586466



Internal ID6626778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74714333..74726895hg38UCSC Ensembl
Innerchr1:74714400..74726829hg38UCSC Ensembl
Outerchr1:74714267..74726962hg38UCSC Ensembl
chr1:75180017..75192579hg19UCSC Ensembl
Innerchr1:75180084..75192513hg19UCSC Ensembl
Outerchr1:75179951..75192646hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3812563
hg1912563
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9975800
SamplesHG01389
Known GenesCRYZ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586466
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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