A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306752



Internal ID15153700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150724169..150724170hg38UCSC Ensembl
Innerchr1:150724112..150724227hg38UCSC Ensembl
Outerchr1:150724111..150724228hg38UCSC Ensembl
chr1:150696645..150696646hg19UCSC Ensembl
Innerchr1:150696588..150696703hg19UCSC Ensembl
Outerchr1:150696587..150696704hg19UCSC Ensembl
chr1:148963269..148963270hg18UCSC Ensembl
Innerchr1:148963327..148963212hg18UCSC Ensembl
Outerchr1:148963211..148963328hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7742305, essv7742927, essv7757551, essv7743868, essv7752854, essv7749762, essv7753040, essv7761118, essv7742711
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)esv3306752
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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