A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5266353



Internal ID8358088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:73220607..73222296hg38UCSC Ensembl
Outerchr17:71216746..71218435hg19UCSC Ensembl
Outerchr17:68728341..68730030hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381690
hg191690
hg181690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2562139
Supporting Variants
SamplesNA18507
Known GenesFAM104A
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)essv5266353
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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