A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2470104



Internal ID8533662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6004651..6006928hg38UCSC Ensembl
Outerchr1:6064711..6066988hg19UCSC Ensembl
Outerchr1:5987298..5989575hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg382278
hg192278
hg182278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5382298
SamplesNA18507
Known GenesKCNAB2
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)esv2470104
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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