A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2617140



Internal ID8334012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:184845001..184852347hg38UCSC Ensembl
Outerchr1:184814135..184821481hg19UCSC Ensembl
Outerchr1:183080758..183088104hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg387347
hg197347
hg187347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5301452
SamplesNA18507
Known GenesFAM129A
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)esv2617140
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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