A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2526423



Internal ID8589982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:98598362..98602150hg38UCSC Ensembl
Outerchr7:98227674..98231462hg19UCSC Ensembl
Outerchr7:98065610..98069398hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg383789
hg193789
hg183789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5184316
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)esv2526423
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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