A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659057



Internal ID9578476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19273066..19287665hg38UCSC Ensembl
chr1:19599560..19614159hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3814600
hg1914600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv25e199
Supporting Variantsessv5893137, essv5932106, essv5744509, essv5727926, essv6107103, essv5563320, essv5450080, essv5781805, essv5668193, essv6046679, essv5920621, essv5948735, essv6082290
SamplesNA19704, NA20340, NA19235, HG00637, NA19445, HG00253, HG00543, HG00320, NA19452, NA18523, HG01107, NA19834, NA19213
Known GenesAKR7A3, AKR7L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659057
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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