A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2479660



Internal ID8196532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:35837380..35838906hg38UCSC Ensembl
Outerchr7:35876990..35878516hg19UCSC Ensembl
Outerchr7:35843515..35845041hg18UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg381527
hg191527
hg181527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5192720
SamplesNA18507
Known GenesSEPT7
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)esv2479660
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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