A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14699261



Internal ID5211202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38534012..38540185hg38UCSC Ensembl
Innerchr13:38534046..38540151hg38UCSC Ensembl
Outerchr13:38533978..38540219hg38UCSC Ensembl
chr13:39108149..39114322hg19UCSC Ensembl
Innerchr13:39108183..39114288hg19UCSC Ensembl
Outerchr13:39108115..39114356hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg386174
hg196174
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631821
Supporting Variants
SamplesNA18619
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14699261
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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