A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665021



Internal ID9584440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29576129..29579407hg38UCSC Ensembl
chr22:29972118..29975396hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg383279
hg193279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5509033, essv5948692, essv5846517, essv5790551, essv6440939, essv6444192, essv5740028, essv5629619
SamplesNA19449, NA19236, NA19704, NA18487, NA19394, HG01390, NA19468, NA19439
Known GenesNIPSNAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665021
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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