A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5329481



Internal ID8421216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:73667993..73669599hg38UCSC Ensembl
Outerchr9:76282909..76284515hg19UCSC Ensembl
Outerchr9:75472729..75474335hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg381607
hg191607
hg181607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2556597
Supporting Variants
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)essv5329481
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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