A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2509625



Internal ID8573183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:64854857..64858337hg38UCSC Ensembl
Outerchr7:64315235..64318715hg19UCSC Ensembl
Outerchr7:63952670..63956150hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg383481
hg193481
hg183481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5322492
SamplesNA18507
Known Genes
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)esv2509625
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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