A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14703152



Internal ID3537219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40529570..40530369hg38UCSC Ensembl
Innerchr13:40529589..40530350hg38UCSC Ensembl
Outerchr13:40529551..40530388hg38UCSC Ensembl
chr13:41103707..41104506hg19UCSC Ensembl
Innerchr13:41103726..41104487hg19UCSC Ensembl
Outerchr13:41103688..41104525hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631857
Supporting Variants
SamplesHG03126
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14703152
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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