A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2493565



Internal ID8210437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128345641..128413323hg38UCSC Ensembl
Outerchr7:127985695..128053377hg19UCSC Ensembl
Outerchr7:127772931..127840613hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3867683
hg1967683
hg1867683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5189617
SamplesNA18507
Known GenesIMPDH1, PRRT4
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)esv2493565
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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