A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647742



Internal ID6687796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38732529..38734073hg38UCSC Ensembl
Innerchr22:38732579..38734023hg38UCSC Ensembl
Outerchr22:38732479..38734123hg38UCSC Ensembl
chr22:39128534..39130078hg19UCSC Ensembl
Innerchr22:39128584..39130028hg19UCSC Ensembl
Outerchr22:39128484..39130128hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381545
hg191545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16424103
SamplesHG03084
Known GenesGTPBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647742
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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