A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364878



Internal ID15211855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11189..36287hg38UCSC Ensembl
Innerchr1:12189..35287hg38UCSC Ensembl
Outerchr1:10052..37287hg38UCSC Ensembl
chr1:11189..36287hg19UCSC Ensembl
Innerchr1:12189..35287hg19UCSC Ensembl
Outerchr1:10052..37287hg19UCSC Ensembl
chr1:1052..26150hg18UCSC Ensembl
Innerchr1:2052..25150hg18UCSC Ensembl
Outerchr1:52..27150hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3825099
hg1925099
hg1825099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1e59
Supporting Variantsessv8691751
SamplesNA12878
Known GenesDDX11L1, FAM138A, FAM138F, LOC100288778, MIR6859-1, MIR6859-2, WASH7P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364878
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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