A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5389206



Internal ID8480941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:92871409..92872989hg38UCSC Ensembl
Outerchr9:95633691..95635271hg19UCSC Ensembl
Outerchr9:94673512..94675092hg18UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg381581
hg191581
hg181581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2468145
Supporting Variants
SamplesNA18507
Known GenesZNF484
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)essv5389206
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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