A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5209359



Internal ID7954408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:2591127..2592607hg38UCSC Ensembl
Outerchr3:2632811..2634291hg19UCSC Ensembl
Outerchr3:2607811..2609291hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg381481
hg191481
hg181481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2450966
Supporting Variants
SamplesNA18507
Known GenesCNTN4
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)essv5209359
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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