A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2471375



Internal ID8534934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:106782878..106784388hg38UCSC Ensembl
Outerchr7:106423324..106424834hg19UCSC Ensembl
Outerchr7:106210560..106212070hg18UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg381511
hg191511
hg181511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5200901
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)esv2471375
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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