A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588558



Internal ID6975975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200423958..200429194hg38UCSC Ensembl
Innerchr1:200424458..200428694hg38UCSC Ensembl
Outerchr1:200422958..200430194hg38UCSC Ensembl
chr1:200393086..200398322hg19UCSC Ensembl
Innerchr1:200393586..200397822hg19UCSC Ensembl
Outerchr1:200392086..200399322hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385237
hg195237
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10264491
SamplesNA12234
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588558
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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