A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5301502



Internal ID8393237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:286558..289163hg38UCSC Ensembl
Outerchr17:136349..138954hg19UCSC Ensembl
Outerchr17:136349..138954hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg382606
hg192606
hg182606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2627504
Supporting Variants
SamplesNA18507
Known GenesRPH3AL
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)essv5301502
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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