A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2603997



Internal ID1634537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:72346839..72347855hg38UCSC Ensembl
Outerchr15:72639180..72640196hg19UCSC Ensembl
Outerchr15:70426234..70427250hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38313
hg19313
hg18313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5385472
SamplesNA18507
Known GenesHEXA
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)esv2603997
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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