A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621515



Internal ID6661694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:112434839..112437731hg38UCSC Ensembl
Innerchr9:112434839..112437731hg38UCSC Ensembl
Outerchr9:112434403..112437972hg38UCSC Ensembl
chr9:115197119..115200011hg19UCSC Ensembl
Innerchr9:115197119..115200011hg19UCSC Ensembl
Outerchr9:115196683..115200252hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg382893
hg192893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13606211, essv13606213, essv13606225, essv13606217, essv13606208, essv13606218, essv13606220, essv13606223, essv13606224, essv13606214, essv13606219, essv13606209, essv13606212, essv13606207, essv13606221, essv13606216, essv13606210, essv13606222, essv13606215
SamplesNA18870, NA19026, NA19149, NA19435, NA19019, NA19474, HG03436, HG02851, NA19247, HG02768, NA19703, NA18486, NA19119, HG03097, NA18915, HG02629, HG02561, NA19655, HG03460
Known GenesHSDL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621515
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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