A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5332165



Internal ID8077214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:95281560..95282965hg38UCSC Ensembl
Outerchr5:94617264..94618669hg19UCSC Ensembl
Outerchr5:94643020..94644425hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381406
hg191406
hg181406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2515116
Supporting Variants
SamplesNA18507
Known GenesMCTP1
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)essv5332165
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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