A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691752



Internal ID15064494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11189..36787hg38UCSC Ensembl
Innerchr1:12189..35787hg38UCSC Ensembl
Outerchr1:10052..37787hg38UCSC Ensembl
chr1:11189..36787hg19UCSC Ensembl
Innerchr1:12189..35787hg19UCSC Ensembl
Outerchr1:10052..37787hg19UCSC Ensembl
chr1:1052..26650hg18UCSC Ensembl
Innerchr1:2052..25650hg18UCSC Ensembl
Outerchr1:52..27650hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3825599
hg1925599
hg1825599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3343481
Supporting Variants
SamplesNA19239
Known GenesDDX11L1, FAM138A, FAM138F, LOC100288778, MIR6859-1, MIR6859-2, WASH7P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691752
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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