A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14669705



Internal ID3915621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:23631187..23807490hg38UCSC Ensembl
chr13:24205326..24381629hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38176304
hg19176304
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631529
Supporting Variants
SamplesHG03571
Known GenesMIPEP, TNFRSF19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14669705
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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