A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16401245



Internal ID6403061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29576049..29577283hg38UCSC Ensembl
Innerchr22:29576199..29577133hg38UCSC Ensembl
Outerchr22:29575899..29577433hg38UCSC Ensembl
chr22:29972038..29973272hg19UCSC Ensembl
Innerchr22:29972188..29973122hg19UCSC Ensembl
Outerchr22:29971888..29973422hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381235
hg191235
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647540
Supporting Variants
SamplesNA20346
Known GenesNIPSNAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16401245
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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