A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647928



Internal ID7034667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45303989..45330146hg38UCSC Ensembl
Innerchr22:45304489..45329646hg38UCSC Ensembl
Outerchr22:45302989..45331146hg38UCSC Ensembl
chr22:45699870..45726027hg19UCSC Ensembl
Innerchr22:45700370..45725527hg19UCSC Ensembl
Outerchr22:45698870..45727027hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3826158
hg1926158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv846e214
Supporting Variantsessv16443307
SamplesNA12005
Known GenesFAM118A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647928
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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