A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619346



Internal ID6659536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:4498485..4519865hg38UCSC Ensembl
Innerchr9:4498485..4519865hg38UCSC Ensembl
Outerchr9:4497985..4520365hg38UCSC Ensembl
chr9:4498485..4519865hg19UCSC Ensembl
Innerchr9:4498485..4519865hg19UCSC Ensembl
Outerchr9:4497985..4520365hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg3821381
hg1921381
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13383231
SamplesNA19682
Known GenesSLC1A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619346
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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