A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588444



Internal ID6975861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:195481644..196056521hg38UCSC Ensembl
Innerchr1:195481688..196056478hg38UCSC Ensembl
Outerchr1:195481601..196056565hg38UCSC Ensembl
chr1:195450774..196025651hg19UCSC Ensembl
Innerchr1:195450818..196025608hg19UCSC Ensembl
Outerchr1:195450731..196025695hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38574878
hg19574878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10246336
SamplesNA18868
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588444
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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