A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2505765



Internal ID8569323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:3898895..3899424hg38UCSC Ensembl
Outerchr17:3802189..3802718hg19UCSC Ensembl
Outerchr17:3748938..3749467hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38618
hg19618
hg18618
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5334369
SamplesNA18507
Known GenesP2RX1
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)esv2505765
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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