A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5224916



Internal ID8316651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:181700096..181701579hg38UCSC Ensembl
Outerchr2:182564823..182566306hg19UCSC Ensembl
Outerchr2:182273068..182274551hg18UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg381484
hg191484
hg181484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2489075
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)essv5224916
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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