A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2554931



Internal ID8618489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:27255069..27258253hg38UCSC Ensembl
Outerchr7:27294688..27297872hg19UCSC Ensembl
Outerchr7:27261213..27264397hg18UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg383185
hg193185
hg183185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5370305
SamplesNA18507
Known Genes
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)esv2554931
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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