A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741192



Internal ID15088020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31253480..31253480hg38UCSC Ensembl
Innerchr5:31253479..31253481hg38UCSC Ensembl
Outerchr5:31253430..31253530hg38UCSC Ensembl
chr5:31253587..31253587hg19UCSC Ensembl
Innerchr5:31253586..31253588hg19UCSC Ensembl
Outerchr5:31253537..31253637hg19UCSC Ensembl
chr5:31289344..31289344hg18UCSC Ensembl
Innerchr5:31289345..31289343hg18UCSC Ensembl
Outerchr5:31289294..31289394hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38361
hg19361
hg18361
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3368091
Supporting Variants
SamplesNA19240
Known GenesCDH6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741192
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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