A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585000



Internal ID6972525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1489544..1526810hg38UCSC Ensembl
Innerchr1:1489694..1526660hg38UCSC Ensembl
Outerchr1:1489394..1526960hg38UCSC Ensembl
chr1:1424924..1462190hg19UCSC Ensembl
Innerchr1:1425074..1462040hg19UCSC Ensembl
Outerchr1:1424774..1462340hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3837267
hg1937267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9840821
SamplesHG02648
Known GenesATAD3A, ATAD3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585000
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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