A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14881028



Internal ID2242279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:103059429..103069934hg38UCSC Ensembl
Innerchr13:103059429..103069934hg38UCSC Ensembl
Outerchr13:103058929..103070434hg38UCSC Ensembl
chr13:103711779..103722284hg19UCSC Ensembl
Innerchr13:103711779..103722284hg19UCSC Ensembl
Outerchr13:103711279..103722784hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3810506
hg1910506
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633391
Supporting Variants
SamplesHG02012
Known GenesSLC10A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14881028
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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