A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14689883



Internal ID4691699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36226829..36237183hg38UCSC Ensembl
Innerchr13:36226877..36237136hg38UCSC Ensembl
Outerchr13:36226782..36237231hg38UCSC Ensembl
chr13:36800966..36811320hg19UCSC Ensembl
Innerchr13:36801014..36811273hg19UCSC Ensembl
Outerchr13:36800919..36811368hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3810355
hg1910355
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631778
Supporting Variants
SamplesNA21142
Known GenesCCDC169, CCDC169-SOHLH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14689883
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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