A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5173663



Internal ID8265398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:192640424..192641917hg38UCSC Ensembl
Outerchr3:192358213..192359706hg19UCSC Ensembl
Outerchr3:193840907..193842400hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381494
hg191494
hg181494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2424454
Supporting Variants
SamplesNA18507
Known GenesFGF12
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)essv5173663
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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