A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585160



Internal ID6625478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8946310..8952931hg38UCSC Ensembl
Innerchr1:8946310..8952931hg38UCSC Ensembl
Outerchr1:8946088..8953203hg38UCSC Ensembl
chr1:9006369..9012990hg19UCSC Ensembl
Innerchr1:9006369..9012990hg19UCSC Ensembl
Outerchr1:9006147..9013262hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg386622
hg196622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9850148, essv9850145, essv9850150, essv9850143, essv9850149, essv9850147, essv9850144, essv9850146
SamplesHG02481, NA18881, HG02836, HG03224, HG03363, HG02878, NA20289, HG03410
Known GenesCA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585160
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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