A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585439



Internal ID6972962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21153578..21158294hg38UCSC Ensembl
Innerchr1:21153578..21158294hg38UCSC Ensembl
Outerchr1:21153478..21158469hg38UCSC Ensembl
chr1:21480071..21484787hg19UCSC Ensembl
Innerchr1:21480071..21484787hg19UCSC Ensembl
Outerchr1:21479971..21484962hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg384717
hg194717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9883282
SamplesHG03046
Known GenesEIF4G3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585439
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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