A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5341865



Internal ID8086914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:10354972..10356534hg38UCSC Ensembl
Outerchr3:10396656..10398218hg19UCSC Ensembl
Outerchr3:10371656..10373218hg18UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg381563
hg191563
hg181563
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2448735
Supporting Variants
SamplesNA18507
Known GenesATP2B2
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)essv5341865
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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