A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5379630



Internal ID8471365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11531359..11561819hg38UCSC Ensembl
OuterchrY:13687035..13717495hg19UCSC Ensembl
OuterchrY:12147035..12177495hg18UCSC Ensembl
CytobandYq11.1
Allele length
AssemblyAllele length
hg3830461
hg1930461
hg1830461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2468861
Supporting Variants
SamplesNA18507
Known Genes
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)essv5379630
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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