A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2507396



Internal ID8224268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99548390..99549275hg38UCSC Ensembl
Outerchr7:99146013..99146898hg19UCSC Ensembl
Outerchr7:98983949..98984834hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38416
hg19416
hg18416
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5315255
SamplesNA18507
Known GenesFAM200A
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)esv2507396
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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