A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16407985



Internal ID6409801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33359627..33364118hg38UCSC Ensembl
Innerchr22:33359777..33363968hg38UCSC Ensembl
Outerchr22:33359477..33364268hg38UCSC Ensembl
chr22:33755613..33760104hg19UCSC Ensembl
Innerchr22:33755763..33759954hg19UCSC Ensembl
Outerchr22:33755463..33760254hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg384492
hg194492
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647624
Supporting Variants
SamplesNA12004
Known GenesLARGE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16407985
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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