A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14693647



Internal ID6020404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36860288..36861664hg38UCSC Ensembl
Innerchr13:36860313..36861640hg38UCSC Ensembl
Outerchr13:36860264..36861689hg38UCSC Ensembl
chr13:37434425..37435801hg19UCSC Ensembl
Innerchr13:37434450..37435777hg19UCSC Ensembl
Outerchr13:37434401..37435826hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg381377
hg191377
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631788
Supporting Variants
SamplesNA19431
Known GenesSMAD9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14693647
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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