A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2490314



Internal ID8207186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:134954548..134956541hg38UCSC Ensembl
Outerchr3:134673390..134675383hg19UCSC Ensembl
Outerchr3:136156080..136158073hg18UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg381994
hg191994
hg181994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5212174
SamplesNA18507
Known GenesEPHB1
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)esv2490314
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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