A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16370914



Internal ID6372730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20902577..21081487hg38UCSC Ensembl
chr22:21256865..21435776hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38178911
hg19178912
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647305
Supporting Variants
SamplesHG01111
Known GenesAIFM3, CRKL, LOC400891, LZTR1, P2RX6, P2RX6P, SLC7A4, THAP7, THAP7-AS1, TUBA3FP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16370914
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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