A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5215876



Internal ID8307611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:155485932..155487402hg38UCSC Ensembl
Outerchr3:155203721..155205191hg19UCSC Ensembl
Outerchr3:156686415..156687885hg18UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg381471
hg191471
hg181471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2441511
Supporting Variants
SamplesNA18507
Known GenesPLCH1
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)essv5215876
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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