A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14721971



Internal ID4723787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49377263..49379726hg38UCSC Ensembl
Innerchr13:49377263..49379726hg38UCSC Ensembl
Outerchr13:49377263..49379726hg38UCSC Ensembl
chr13:49951399..49953862hg19UCSC Ensembl
Innerchr13:49951399..49953862hg19UCSC Ensembl
Outerchr13:49951399..49953862hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382464
hg192464
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632046
Supporting Variants
SamplesHG03693
Known GenesCAB39L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14721971
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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