A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647590



Internal ID7034330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31515026..31517504hg38UCSC Ensembl
Innerchr22:31515032..31517499hg38UCSC Ensembl
Outerchr22:31515021..31517510hg38UCSC Ensembl
chr22:31911012..31913490hg19UCSC Ensembl
Innerchr22:31911018..31913485hg19UCSC Ensembl
Outerchr22:31911007..31913496hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382479
hg192479
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16403914, essv16403916, essv16403913, essv16403915, essv16403917
SamplesNA20339, HG03378, HG02111, NA19917, NA19239
Known GenesSFI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647590
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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