A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14879608



Internal ID4881424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101469479..101481605hg38UCSC Ensembl
Innerchr13:101469496..101481588hg38UCSC Ensembl
Outerchr13:101469462..101481622hg38UCSC Ensembl
chr13:102121830..102133956hg19UCSC Ensembl
Innerchr13:102121847..102133939hg19UCSC Ensembl
Outerchr13:102121813..102133973hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3812127
hg1912127
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633363
Supporting Variants
SamplesHG02790
Known GenesITGBL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14879608
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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