A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638231



Internal ID7025017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23625158..23632286hg38UCSC Ensembl
Innerchr16:23625202..23632243hg38UCSC Ensembl
Outerchr16:23625115..23632330hg38UCSC Ensembl
chr16:23636479..23643607hg19UCSC Ensembl
Innerchr16:23636523..23643564hg19UCSC Ensembl
Outerchr16:23636436..23643651hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg387129
hg197129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv496e214
Supporting Variantsessv15426935
SamplesHG03857
Known GenesPALB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638231
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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