A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688098



Internal ID14693319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46215610..46219808hg38UCSC Ensembl
Innerchr10:46216610..46218808hg38UCSC Ensembl
Outerchr10:46214610..46220808hg38UCSC Ensembl
chr10:47586846..47591044hg19UCSC Ensembl
Innerchr10:47587846..47590044hg19UCSC Ensembl
Outerchr10:47585846..47592044hg19UCSC Ensembl
chr10:47056852..47061050hg18UCSC Ensembl
Innerchr10:47057852..47060050hg18UCSC Ensembl
Outerchr10:47055852..47062050hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg384199
hg194199
hg184199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3368270
Supporting Variants
SamplesNA19239
Known GenesANTXRLP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688098
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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