A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2569672



Internal ID1600212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:148081345..148083258hg38UCSC Ensembl
Outerchr5:147460908..147462821hg19UCSC Ensembl
Outerchr5:147441101..147443014hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381914
hg191914
hg181914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5245897
SamplesNA18507
Known GenesSPINK5
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)esv2569672
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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