A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2438788



Internal ID8155660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45050769..45052363hg38UCSC Ensembl
Outerchr17:43128137..43129731hg19UCSC Ensembl
Outerchr17:40483663..40485257hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381595
hg191595
hg181595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5300931
SamplesNA18507
Known GenesDCAKD
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)esv2438788
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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