A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647853



Internal ID7034592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43108580..43114487hg38UCSC Ensembl
Innerchr22:43108634..43114434hg38UCSC Ensembl
Outerchr22:43108527..43114541hg38UCSC Ensembl
chr22:43504586..43510493hg19UCSC Ensembl
Innerchr22:43504640..43510440hg19UCSC Ensembl
Outerchr22:43504533..43510547hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg385908
hg195908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16435357, essv16435358
SamplesHG02610, HG02624
Known GenesBIK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647853
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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