A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5194311



Internal ID8286046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1046185..1048042hg38UCSC Ensembl
Outerchr10:1092125..1093982hg19UCSC Ensembl
Outerchr10:1082125..1083982hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381858
hg191858
hg181858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2483699
Supporting Variants
SamplesNA18507
Known GenesIDI1
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)essv5194311
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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