A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619169



Internal ID7006049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125163..128195hg38UCSC Ensembl
Innerchr9:125163..128195hg38UCSC Ensembl
Outerchr9:124893..128412hg38UCSC Ensembl
chr9:125163..128195hg19UCSC Ensembl
Innerchr9:125163..128195hg19UCSC Ensembl
Outerchr9:124893..128412hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg383033
hg193033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13373274, essv13373273, essv13373275, essv13373276
SamplesHG00231, HG00142, HG01708, HG01765
Known GenesCBWD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619169
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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