A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3397362



Internal ID15244325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173228280..173228299hg38UCSC Ensembl
Innerchr4:173228276..173228303hg38UCSC Ensembl
Outerchr4:173228257..173228322hg38UCSC Ensembl
chr4:174149431..174149450hg19UCSC Ensembl
Innerchr4:174149427..174149454hg19UCSC Ensembl
Outerchr4:174149408..174149473hg19UCSC Ensembl
chr4:174386006..174386025hg18UCSC Ensembl
Innerchr4:174386029..174386002hg18UCSC Ensembl
Outerchr4:174385983..174386048hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9619481, essv9619459, essv9619492, essv9619525, essv9619470, essv9619448, essv9619503, essv9619514
SamplesNA12814, NA07347, NA12287, NA12815, NA12872, NA11894, NA11840, NA12874
Known GenesGALNT7
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3397362
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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