A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2467595



Internal ID8531153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:79323768..79325150hg38UCSC Ensembl
Outerchr7:78953084..78954466hg19UCSC Ensembl
Outerchr7:78791020..78792402hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg381383
hg191383
hg181383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5202425
SamplesNA18507
Known GenesMAGI2
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)esv2467595
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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