A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5278731



Internal ID8370466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:53397987..53401604hg38UCSC Ensembl
Outerchr2:53625125..53628742hg19UCSC Ensembl
Outerchr2:53478629..53482246hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg383618
hg193618
hg183618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2458894
Supporting Variants
SamplesNA18507
Known Genes
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)essv5278731
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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