A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5178593



Internal ID7923642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:109667126..109668657hg38UCSC Ensembl
Outerchr9:112429406..112430937hg19UCSC Ensembl
Outerchr9:111469227..111470758hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg381532
hg191532
hg181532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2563678
Supporting Variants
SamplesNA18507
Known GenesPALM2
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)essv5178593
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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