A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587252



Internal ID6974679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113940279..113972862hg38UCSC Ensembl
chr1:114482901..114515484hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3832584
hg1932584
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10079259
SamplesNA18523
Known GenesHIPK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587252
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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