A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2621844



Internal ID8338716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:52222900..52274189hg38UCSC Ensembl
Outerchr10:53982660..54033949hg19UCSC Ensembl
Outerchr10:53652666..53703955hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3851290
hg1951290
hg1851290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5275838
SamplesNA18507
Known GenesPRKG1
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)esv2621844
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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