A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5196587



Internal ID7941636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:74623485..74624574hg38UCSC Ensembl
Outerchr17:72619624..72620713hg19UCSC Ensembl
Outerchr17:70131219..70132308hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38167
hg19167
hg18167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2604772
Supporting Variants
SamplesNA18507
Known GenesCD300E
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)essv5196587
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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