A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691069



Internal ID15103851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83022187..83023385hg38UCSC Ensembl
Innerchr17:83022385..83023187hg38UCSC Ensembl
Outerchr17:83021187..83024385hg38UCSC Ensembl
chr17:80980063..80981261hg19UCSC Ensembl
Innerchr17:80980261..80981063hg19UCSC Ensembl
Outerchr17:80979063..80982261hg19UCSC Ensembl
chr17:78573352..78574550hg18UCSC Ensembl
Innerchr17:78574352..78573550hg18UCSC Ensembl
Outerchr17:78572352..78575550hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3348459
Supporting Variants
SamplesNA19240
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691069
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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