A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2504567



Internal ID1535107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150061388..150062903hg38UCSC Ensembl
Outerchr5:149440951..149442466hg19UCSC Ensembl
Outerchr5:149421144..149422659hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381516
hg191516
hg181516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5325404
SamplesNA18507
Known GenesCSF1R
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)esv2504567
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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