A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5286529



Internal ID8378264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:40508991..40509774hg38UCSC Ensembl
Outerchr17:38665243..38666026hg19UCSC Ensembl
Outerchr17:35918769..35919552hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38497
hg19497
hg18497
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422801
Supporting Variants
SamplesNA18507
Known Genes
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5286529
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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