A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3377716



Internal ID15224689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150724174..150724226hg38UCSC Ensembl
Innerchr1:150724189..150724209hg38UCSC Ensembl
Outerchr1:150724137..150724261hg38UCSC Ensembl
chr1:150696650..150696702hg19UCSC Ensembl
Innerchr1:150696665..150696685hg19UCSC Ensembl
Outerchr1:150696613..150696737hg19UCSC Ensembl
chr1:148963274..148963326hg18UCSC Ensembl
Innerchr1:148963309..148963289hg18UCSC Ensembl
Outerchr1:148963237..148963361hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8901365, essv8901360, essv8901364, essv8901363, essv8901367, essv8901361, essv8901366, essv8901358, essv8901362
SamplesNA07346, NA18519, NA07347, NA12287, NA18964, NA12749, NA19093, NA18505, NA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3377716
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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