A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14716011



Internal ID6664262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48090433..48090924hg38UCSC Ensembl
Innerchr13:48090433..48090924hg38UCSC Ensembl
Outerchr13:48090346..48091161hg38UCSC Ensembl
chr13:48664569..48665060hg19UCSC Ensembl
Innerchr13:48664569..48665060hg19UCSC Ensembl
Outerchr13:48664482..48665297hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632017
Supporting Variants
SamplesNA20807
Known GenesMED4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14716011
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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