A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25786626



Internal ID18833472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20735860..21042239hg38UCSC Ensembl
Innerchr22:21090148..21396528hg19UCSC Ensembl
Innerchr22:19420148..19726528hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38306380
hg19306381
hg18306381
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893441
Supporting Variants
Samples
Known GenesAIFM3, CRKL, LZTR1, P2RX6, PI4KA, SERPIND1, SLC7A4, SNAP29, THAP7, THAP7-AS1, TUBA3FP
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=66
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25786626
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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