A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13591952



Internal ID3593768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:104833907..104834826hg38UCSC Ensembl
Innerchr9:104833907..104834826hg38UCSC Ensembl
Outerchr9:104833907..104834826hg38UCSC Ensembl
chr9:107596188..107597107hg19UCSC Ensembl
Innerchr9:107596188..107597107hg19UCSC Ensembl
Outerchr9:107596188..107597107hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38920
hg19920
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621345
Supporting Variants
SamplesHG00476
Known GenesABCA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13591952
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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