A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13622640



Internal ID2007688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127832820..127834608hg38UCSC Ensembl
Innerchr9:127832881..127834548hg38UCSC Ensembl
Outerchr9:127832760..127834669hg38UCSC Ensembl
chr9:130595099..130596887hg19UCSC Ensembl
Innerchr9:130595160..130596827hg19UCSC Ensembl
Outerchr9:130595039..130596948hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381789
hg191789
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621794
Supporting Variants
SamplesHG01853
Known GenesENG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13622640
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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