A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893441



Internal ID18837575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20735860..21042239hg38UCSC Ensembl
Outerchr22:20733858..21135629hg38UCSC Ensembl
Innerchr22:21090148..21396528hg19UCSC Ensembl
Outerchr22:21088146..21489918hg19UCSC Ensembl
Innerchr22:19420148..19726528hg18UCSC Ensembl
Outerchr22:19418146..19819918hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38401772
hg19401773
hg18401773
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25783505, essv25786626, essv25792985
Samples
Known GenesAIFM3, BCRP2, CRKL, LOC400891, LZTR1, P2RX6, P2RX6P, PI4KA, SERPIND1, SLC7A4, SNAP29, THAP7, THAP7-AS1, TUBA3FP
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893441
Frequency
Sample Size3017
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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