A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631656



Internal ID7018464
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14680711
SamplesHG00560
Known GenesSLC7A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631656
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer