A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2427260



Internal ID1457800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:150646158..150647672hg38UCSC Ensembl
Outerchr1:150618634..150620148hg19UCSC Ensembl
Outerchr1:148885258..148886772hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg381515
hg191515
hg181515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5264499
SamplesNA18507
Known GenesGOLPH3L
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)esv2427260
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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