A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5369270



Internal ID8461005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:29941159..29942439hg38UCSC Ensembl
Outerchr10:30230088..30231368hg19UCSC Ensembl
Outerchr10:30270094..30271374hg18UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg381281
hg191281
hg181281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2645901
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)essv5369270
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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