A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6395205



Internal ID9646356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41808767..41809486hg38UCSC Ensembl
Outerchr17:41808610..41809639hg38UCSC Ensembl
Innerchr17:39965019..39965738hg19UCSC Ensembl
Outerchr17:39964862..39965891hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381030
hg191030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2664779
Supporting Variants
SamplesNA19379
Known GenesLEPREL4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6395205
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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