A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691023



Internal ID14681021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74727418..74729416hg38UCSC Ensembl
Innerchr17:74728416..74728418hg38UCSC Ensembl
Outerchr17:74726418..74730416hg38UCSC Ensembl
chr17:72723557..72725555hg19UCSC Ensembl
Innerchr17:72724555..72724557hg19UCSC Ensembl
Outerchr17:72722557..72726555hg19UCSC Ensembl
chr17:70235152..70237150hg18UCSC Ensembl
Innerchr17:70236152..70236150hg18UCSC Ensembl
Outerchr17:70234152..70238150hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3360135
Supporting Variants
SamplesNA19238
Known GenesRAB37
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691023
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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