A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330014



Internal ID15177000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1438890..1440088hg38UCSC Ensembl
Innerchr7:1439088..1439890hg38UCSC Ensembl
Outerchr7:1437890..1441088hg38UCSC Ensembl
chr7:1478526..1479724hg19UCSC Ensembl
Innerchr7:1478724..1479526hg19UCSC Ensembl
Outerchr7:1477526..1480724hg19UCSC Ensembl
chr7:1445052..1446250hg18UCSC Ensembl
Innerchr7:1446052..1445250hg18UCSC Ensembl
Outerchr7:1444052..1447250hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695626
SamplesNA19240
Known GenesMICALL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330014
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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