A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3648067



Internal ID7034804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49656034..49664955hg38UCSC Ensembl
Innerchr22:49656184..49664805hg38UCSC Ensembl
Outerchr22:49655884..49665105hg38UCSC Ensembl
chr22:50049682..50058603hg19UCSC Ensembl
Innerchr22:50049832..50058453hg19UCSC Ensembl
Outerchr22:50049532..50058753hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg388922
hg198922
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16457744, essv16457743
SamplesHG00142, HG02855
Known GenesC22orf34
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3648067
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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