A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14682690



Internal ID5981954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30936520..30940530hg38UCSC Ensembl
Innerchr13:30936544..30940507hg38UCSC Ensembl
Outerchr13:30936497..30940554hg38UCSC Ensembl
chr13:31510657..31514667hg19UCSC Ensembl
Innerchr13:31510681..31514644hg19UCSC Ensembl
Outerchr13:31510634..31514691hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg384011
hg194011
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631682
Supporting Variants
SamplesNA19390
Known GenesTEX26
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14682690
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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