A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647532



Internal ID6687587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29365410..29421405hg38UCSC Ensembl
Innerchr22:29365560..29421255hg38UCSC Ensembl
Outerchr22:29365260..29421555hg38UCSC Ensembl
chr22:29761399..29817394hg19UCSC Ensembl
Innerchr22:29761549..29817244hg19UCSC Ensembl
Outerchr22:29761249..29817544hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3855996
hg1955996
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv837e214
Supporting Variantsessv16401092, essv16401090, essv16401091
SamplesHG02648, NA20878, HG01889
Known GenesAP1B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647532
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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