A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13458100



Internal ID2196746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:34183804..34188239hg38UCSC Ensembl
Innerchr9:34183825..34188219hg38UCSC Ensembl
Outerchr9:34183784..34188260hg38UCSC Ensembl
chr9:34183802..34188237hg19UCSC Ensembl
Innerchr9:34183823..34188217hg19UCSC Ensembl
Outerchr9:34183782..34188258hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg384436
hg194436
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620351
Supporting Variants
SamplesHG01980
Known GenesUBAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13458100
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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