A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2533512



Internal ID8597070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:117715714..117716808hg38UCSC Ensembl
Outerchr7:117355768..117356862hg19UCSC Ensembl
Outerchr7:117143004..117144098hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38156
hg19156
hg18156
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5332882
SamplesNA18507
Known GenesCTTNBP2
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)esv2533512
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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