A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2512119



Internal ID8575677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:90630243..90632147hg38UCSC Ensembl
Outerchr15:91173475..91175379hg19UCSC Ensembl
Outerchr15:88974479..88976383hg18UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg381905
hg191905
hg181905
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5185742
SamplesNA18507
Known GenesCRTC3
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)esv2512119
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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