A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13621688



Internal ID3623504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127270849..127272516hg38UCSC Ensembl
Innerchr9:127270854..127272512hg38UCSC Ensembl
Outerchr9:127270845..127272521hg38UCSC Ensembl
chr9:130033128..130034795hg19UCSC Ensembl
Innerchr9:130033133..130034791hg19UCSC Ensembl
Outerchr9:130033124..130034800hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381668
hg191668
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621777
Supporting Variants
SamplesHG02646
Known GenesGARNL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13621688
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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