A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2566082



Internal ID8282954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75043314..75044944hg38UCSC Ensembl
Outerchr17:73039409..73041039hg19UCSC Ensembl
Outerchr17:70551004..70552634hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381631
hg191631
hg181631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5320827
SamplesNA18507
Known GenesATP5H
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)esv2566082
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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