A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14680711



Internal ID940104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29553405..29561755hg38UCSC Ensembl
Innerchr13:29553441..29561720hg38UCSC Ensembl
Outerchr13:29553370..29561791hg38UCSC Ensembl
chr13:30127542..30135892hg19UCSC Ensembl
Innerchr13:30127578..30135857hg19UCSC Ensembl
Outerchr13:30127507..30135928hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg388351
hg198351
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631656
Supporting Variants
SamplesHG00560
Known GenesSLC7A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14680711
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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