A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2639295



Internal ID8356167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:86577796..86579332hg38UCSC Ensembl
Outerchr2:86804919..86806455hg19UCSC Ensembl
Outerchr2:86658430..86659966hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381537
hg191537
hg181537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5320005
SamplesNA18507
Known GenesRNF103-CHMP3
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)esv2639295
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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