A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13615174



Internal ID6554327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:120346730..120350726hg38UCSC Ensembl
Innerchr9:120346744..120350712hg38UCSC Ensembl
Outerchr9:120346716..120350740hg38UCSC Ensembl
chr9:123109008..123113004hg19UCSC Ensembl
Innerchr9:123109022..123112990hg19UCSC Ensembl
Outerchr9:123108994..123113018hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg383997
hg193997
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621650
Supporting Variants
SamplesNA20754
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13615174
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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