A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5195219



Internal ID7940268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:204268968..204270004hg38UCSC Ensembl
Outerchr1:204238096..204239132hg19UCSC Ensembl
Outerchr1:202504719..202505755hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38187
hg19187
hg18187
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2449168
Supporting Variants
SamplesNA18507
Known GenesPLEKHA6
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)essv5195219
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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