A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2535563



Internal ID1566103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13230217..13231758hg38UCSC Ensembl
Outerchr6:13230449..13231990hg19UCSC Ensembl
Outerchr6:13338428..13339969hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg381542
hg191542
hg181542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5387277
SamplesNA18507
Known GenesPHACTR1
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)esv2535563
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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