A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2479838



Internal ID8196710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:63551714..63552644hg38UCSC Ensembl
Outerchr2:63778848..63779778hg19UCSC Ensembl
Outerchr2:63632352..63633282hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38278
hg19278
hg18278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5239601
SamplesNA18507
Known GenesWDPCP
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)esv2479838
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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