A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2437738



Internal ID8501296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:27473931..27475442hg38UCSC Ensembl
Outerchr7:27513550..27515061hg19UCSC Ensembl
Outerchr7:27480075..27481586hg18UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg381512
hg191512
hg181512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5249176
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)esv2437738
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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