A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307839



Internal ID14808101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88462843..88462844hg38UCSC Ensembl
Innerchr16:88462826..88462861hg38UCSC Ensembl
Outerchr16:88462825..88462862hg38UCSC Ensembl
chr16:88529251..88529252hg19UCSC Ensembl
Innerchr16:88529234..88529269hg19UCSC Ensembl
Outerchr16:88529233..88529270hg19UCSC Ensembl
chr16:87056752..87056753hg18UCSC Ensembl
Innerchr16:87056770..87056735hg18UCSC Ensembl
Outerchr16:87056734..87056771hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38244
hg19244
hg18244
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7808741, essv7782736, essv7801306, essv7819323, essv7785585, essv7797504, essv7813801, essv7835002, essv7821372
SamplesNA12717, NA12750, NA12812, NA11992, NA12287, NA10847, NA12043, NA12873, NA07051
Known GenesZFPM1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307839
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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