A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2598318



Internal ID8315190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179681577..179682174hg38UCSC Ensembl
Outerchr1:179650712..179651309hg19UCSC Ensembl
Outerchr1:177917335..177917932hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38641
hg19641
hg18641
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5231502
SamplesNA18507
Known GenesTDRD5
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)esv2598318
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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