A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5187702



Internal ID8279437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:97715642..97717270hg38UCSC Ensembl
Outerchr3:97434486..97436114hg19UCSC Ensembl
Outerchr3:98917176..98918804hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg381629
hg191629
hg181629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2532432
Supporting Variants
SamplesNA18507
Known GenesEPHA6
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)essv5187702
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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