A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13383231



Internal ID3385047
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619346
Supporting Variants
SamplesNA19682
Known GenesSLC1A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13383231
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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