A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5379927



Internal ID8124976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:91269908..91271380hg38UCSC Ensembl
Outerchr9:94032190..94033662hg19UCSC Ensembl
Outerchr9:93072011..93073483hg18UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg381473
hg191473
hg181473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2491583
Supporting Variants
SamplesNA18507
Known GenesAUH
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)essv5379927
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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