A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14890453



Internal ID2264214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:107463632..107467687hg38UCSC Ensembl
Innerchr13:107463639..107467680hg38UCSC Ensembl
Outerchr13:107463625..107467694hg38UCSC Ensembl
chr13:108115980..108120035hg19UCSC Ensembl
Innerchr13:108115987..108120028hg19UCSC Ensembl
Outerchr13:108115973..108120042hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg384056
hg194056
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633486
Supporting Variants
SamplesHG02025
Known GenesFAM155A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14890453
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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