A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14710598



Internal ID5126052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44833641..44853070hg38UCSC Ensembl
Innerchr13:44833658..44853053hg38UCSC Ensembl
Outerchr13:44833624..44853087hg38UCSC Ensembl
chr13:45407777..45427206hg19UCSC Ensembl
Innerchr13:45407794..45427189hg19UCSC Ensembl
Outerchr13:45407760..45427223hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg3819430
hg1919430
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631941
Supporting Variants
SamplesNA18565
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14710598
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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