A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621003



Internal ID7007873
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13549117, essv13549127, essv13549115, essv13549120, essv13549118, essv13549129, essv13549116, essv13549124, essv13549130, essv13549119, essv13549125, essv13549133, essv13549134, essv13549126, essv13549128, essv13549122, essv13549132, essv13549121, essv13549123, essv13549131
SamplesNA20588, HG01098, HG00242, HG00306, HG04094, HG00181, HG01488, HG00173, HG04144, HG01069, HG01072, HG00338, HG01171, HG04146, NA19663, HG00740, HG01403, HG01625, NA19652, NA20804
Known GenesSPIN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621003
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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