A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2505970



Internal ID8569528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:107664998..107669931hg38UCSC Ensembl
Outerchr9:110427279..110432212hg19UCSC Ensembl
Outerchr9:109467100..109472033hg18UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg384934
hg194934
hg184934
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5307062
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)esv2505970
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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