A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5170004



Internal ID8261739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:77174339..77175420hg38UCSC Ensembl
Outerchr13:77748474..77749555hg19UCSC Ensembl
Outerchr13:76646475..76647556hg18UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38222
hg19222
hg18222
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2515250
Supporting Variants
SamplesNA18507
Known GenesMYCBP2
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)essv5170004
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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