A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13412044



Internal ID3413860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:17257679..17263736hg38UCSC Ensembl
Innerchr9:17258179..17263236hg38UCSC Ensembl
Outerchr9:17256679..17264736hg38UCSC Ensembl
chr9:17257677..17263734hg19UCSC Ensembl
Innerchr9:17258177..17263234hg19UCSC Ensembl
Outerchr9:17256677..17264734hg19UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg386058
hg196058
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619836
Supporting Variants
SamplesNA19397
Known GenesCNTLN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13412044
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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