A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632062



Internal ID6672187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50004941..50007612hg38UCSC Ensembl
Innerchr13:50005091..50007462hg38UCSC Ensembl
Outerchr13:50004791..50007762hg38UCSC Ensembl
chr13:50579077..50581748hg19UCSC Ensembl
Innerchr13:50579227..50581598hg19UCSC Ensembl
Outerchr13:50578927..50581898hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382672
hg192672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14726009, essv14726015, essv14726017, essv14726013, essv14726011, essv14726007, essv14726008, essv14726006, essv14726012, essv14726010, essv14726014, essv14726016
SamplesHG03279, HG02546, HG02896, HG03311, NA19428, NA19107, NA19096, NA18916, NA19703, NA19206, HG03028, HG02256
Known GenesDLEU2, TRIM13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632062
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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