A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14713649



Internal ID5446840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:47262090..47266505hg38UCSC Ensembl
Innerchr13:47262090..47266505hg38UCSC Ensembl
Outerchr13:47261965..47266661hg38UCSC Ensembl
chr13:47836225..47840640hg19UCSC Ensembl
Innerchr13:47836225..47840640hg19UCSC Ensembl
Outerchr13:47836100..47840796hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg384416
hg194416
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632004
Supporting Variants
SamplesNA18963
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14713649
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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