A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14828446



Internal ID3206038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:85961504..85974464hg38UCSC Ensembl
Innerchr13:85962004..85973964hg38UCSC Ensembl
Outerchr13:85960504..85975464hg38UCSC Ensembl
chr13:86535639..86548599hg19UCSC Ensembl
Innerchr13:86536139..86548099hg19UCSC Ensembl
Outerchr13:86534639..86549599hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3812961
hg1912961
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632998
Supporting Variants
SamplesHG02813
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14828446
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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