A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2510594



Internal ID8227466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63653655..63654676hg38UCSC Ensembl
Outerchr17:61731015..61732036hg19UCSC Ensembl
Outerchr17:59084747..59085768hg18UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38170
hg19170
hg18170
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5341670
SamplesNA18507
Known GenesMAP3K3
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)esv2510594
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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