A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5280620



Internal ID8025669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:77519580..77520459hg38UCSC Ensembl
Outerchr10:79279338..79280217hg19UCSC Ensembl
Outerchr10:78949344..78950223hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38265
hg19265
hg18265
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2641092
Supporting Variants
SamplesNA18507
Known GenesKCNMA1
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)essv5280620
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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