A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429323



Internal ID14929593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42666181..42666192hg38UCSC Ensembl
Innerchr5:42666174..42666199hg38UCSC Ensembl
Outerchr5:42666163..42666210hg38UCSC Ensembl
chr5:42666283..42666294hg19UCSC Ensembl
Innerchr5:42666276..42666301hg19UCSC Ensembl
Outerchr5:42666265..42666312hg19UCSC Ensembl
chr5:42702040..42702051hg18UCSC Ensembl
Innerchr5:42702058..42702033hg18UCSC Ensembl
Outerchr5:42702022..42702069hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675935, essv8675934
SamplesNA19239, NA19240
Known GenesGHR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429323
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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