A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604853



Internal ID6645103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41754774..41757773hg38UCSC Ensembl
Innerchr5:41754774..41757773hg38UCSC Ensembl
Outerchr5:41754495..41757981hg38UCSC Ensembl
chr5:41754876..41757875hg19UCSC Ensembl
Innerchr5:41754876..41757875hg19UCSC Ensembl
Outerchr5:41754597..41758083hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11882080, essv11882079, essv11882077, essv11882078, essv11882076
SamplesNA19037, HG02308, HG03372, HG03117, NA19466
Known GenesOXCT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604853
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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