A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16427642



Internal ID6372149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38978018..38979674hg38UCSC Ensembl
Innerchr22:38978046..38979646hg38UCSC Ensembl
Outerchr22:38977990..38979702hg38UCSC Ensembl
chr22:39374023..39375679hg19UCSC Ensembl
Innerchr22:39374051..39375651hg19UCSC Ensembl
Outerchr22:39373995..39375707hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381657
hg191657
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647750
Supporting Variants
SamplesNA20314
Known GenesAPOBEC3A_B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16427642
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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