A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2571731



Internal ID8288603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:36956492..36957820hg38UCSC Ensembl
Outerchr15:37248693..37250021hg19UCSC Ensembl
Outerchr15:35035985..35037313hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg381329
hg191329
hg181329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5328137
SamplesNA18507
Known GenesMEIS2
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)esv2571731
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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