A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13618440



Internal ID530294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123213458..123220096hg38UCSC Ensembl
Innerchr9:123213458..123220096hg38UCSC Ensembl
Outerchr9:123213293..123220212hg38UCSC Ensembl
chr9:125975737..125982375hg19UCSC Ensembl
Innerchr9:125975737..125982375hg19UCSC Ensembl
Outerchr9:125975572..125982491hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg386639
hg196639
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621689
Supporting Variants
SamplesHG00231
Known GenesSTRBP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13618440
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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