A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5367375



Internal ID8112424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:9405537..9407116hg38UCSC Ensembl
Outerchr2:9545666..9547245hg19UCSC Ensembl
Outerchr2:9463117..9464696hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381580
hg191580
hg181580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2478125
Supporting Variants
SamplesNA18507
Known GenesASAP2, ITGB1BP1
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)essv5367375
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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