A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13549129



Internal ID4608704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:88394903..88399134hg38UCSC Ensembl
Innerchr9:88394943..88399094hg38UCSC Ensembl
Outerchr9:88394863..88399174hg38UCSC Ensembl
chr9:91009818..91014049hg19UCSC Ensembl
Innerchr9:91009858..91014009hg19UCSC Ensembl
Outerchr9:91009778..91014089hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg384232
hg194232
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621003
Supporting Variants
SamplesHG04144
Known GenesSPIN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13549129
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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