A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647819



Internal ID6687872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42385180..42506410hg38UCSC Ensembl
Innerchr22:42385330..42506260hg38UCSC Ensembl
Outerchr22:42385030..42506560hg38UCSC Ensembl
chr22:42781186..42902416hg19UCSC Ensembl
Innerchr22:42781336..42902266hg19UCSC Ensembl
Outerchr22:42781036..42902566hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38121231
hg19121231
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16431334
SamplesHG01374
Known GenesNFAM1, SERHL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647819
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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