A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14729850



Internal ID4731666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51806371..51836538hg38UCSC Ensembl
Innerchr13:51806521..51836388hg38UCSC Ensembl
Outerchr13:51806221..51836688hg38UCSC Ensembl
chr13:52380507..52410674hg19UCSC Ensembl
Innerchr13:52380657..52410524hg19UCSC Ensembl
Outerchr13:52380357..52410824hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3830168
hg1930168
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632083
Supporting Variants
SamplesHG01924
Known GenesLINC00282
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14729850
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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