A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647925



Internal ID7034664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45301005..45330579hg38UCSC Ensembl
chr22:45696886..45726460hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3829575
hg1929575
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv846e214
Supporting Variantsessv16443193, essv16443196, essv16443195, essv16443194
SamplesNA19076, NA12005, NA18952, NA18957
Known GenesFAM118A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647925
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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