A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621876



Internal ID7008742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:131261999..131263028hg38UCSC Ensembl
Innerchr9:131262006..131263022hg38UCSC Ensembl
Outerchr9:131261993..131263035hg38UCSC Ensembl
chr9:134137386..134138415hg19UCSC Ensembl
Innerchr9:134137393..134138409hg19UCSC Ensembl
Outerchr9:134137380..134138422hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg381030
hg191030
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13630771, essv13630777, essv13630784, essv13630779, essv13630787, essv13630788, essv13630775, essv13630785, essv13630783, essv13630774, essv13630776, essv13630772, essv13630773, essv13630780, essv13630786, essv13630781, essv13630782, essv13630770, essv13630769, essv13630778
SamplesHG03514, HG03057, HG03300, HG02419, NA19020, HG03133, NA19319, HG03342, HG03195, HG01247, HG02678, HG02537, HG03294, HG02577, NA18499, HG02979, NA18523, NA19308, HG03103, NA19429
Known GenesFAM78A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621876
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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