A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5176764



Internal ID8268499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:73053945..73055492hg38UCSC Ensembl
Outerchr9:75668861..75670408hg19UCSC Ensembl
Outerchr9:74858681..74860228hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg381548
hg191548
hg181548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2629702
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)essv5176764
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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