A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15748445



Internal ID5750261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77380806..77386410hg38UCSC Ensembl
Innerchr17:77380807..77386409hg38UCSC Ensembl
Outerchr17:77380805..77386411hg38UCSC Ensembl
chr17:75376888..75382492hg19UCSC Ensembl
Innerchr17:75376889..75382491hg19UCSC Ensembl
Outerchr17:75376887..75382493hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385605
hg195605
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641312
Supporting Variants
SamplesHG01809
Known GenesSEPT9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15748445
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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