A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3359641



Internal ID14859903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:87949144..87949158hg38UCSC Ensembl
Innerchr14:87949144..87949156hg38UCSC Ensembl
Outerchr14:87949130..87949170hg38UCSC Ensembl
chr14:88415488..88415502hg19UCSC Ensembl
Innerchr14:88415488..88415500hg19UCSC Ensembl
Outerchr14:88415474..88415514hg19UCSC Ensembl
chr14:87485241..87485255hg18UCSC Ensembl
Innerchr14:87485253..87485241hg18UCSC Ensembl
Outerchr14:87485227..87485267hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8967158, essv8967151, essv8967157, essv8967155, essv8967154, essv8967156, essv8967150, essv8967153, essv8967152
SamplesNA18605, NA18561, NA18550, NA18603, NA18573, NA18576, NA18547, NA18537, NA18562
Known GenesGALC
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3359641
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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