A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588454



Internal ID6975871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:195924706..196045258hg38UCSC Ensembl
chr1:195893836..196014388hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38120553
hg19120553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv71e214
Supporting Variantsessv10246743
SamplesNA18868
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588454
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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