A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691025



Internal ID14756869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74727618..74729216hg38UCSC Ensembl
Innerchr17:74728216..74728618hg38UCSC Ensembl
Outerchr17:74726618..74730216hg38UCSC Ensembl
chr17:72723757..72725355hg19UCSC Ensembl
Innerchr17:72724355..72724757hg19UCSC Ensembl
Outerchr17:72722757..72726355hg19UCSC Ensembl
chr17:70235352..70236950hg18UCSC Ensembl
Innerchr17:70236352..70235950hg18UCSC Ensembl
Outerchr17:70234352..70237950hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3346821
Supporting Variants
SamplesNA19240
Known GenesRAB37
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691025
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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