A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2462035



Internal ID8178907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:69237498..69239023hg38UCSC Ensembl
Outerchr10:70997254..70998779hg19UCSC Ensembl
Outerchr10:70667260..70668785hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg381526
hg191526
hg181526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5166655
SamplesNA18507
Known GenesHKDC1
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)esv2462035
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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