A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5246995



Internal ID7992044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76050051..76051099hg38UCSC Ensembl
Outerchr17:74046132..74047180hg19UCSC Ensembl
Outerchr17:71557727..71558775hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38164
hg19164
hg18164
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2588678
Supporting Variants
SamplesNA18507
Known GenesSRP68
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)essv5246995
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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