A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2647265



Internal ID8364138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:75498133..75539570hg38UCSC Ensembl
Outerchr16:75532031..75573468hg19UCSC Ensembl
Outerchr16:74089532..74130969hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3841438
hg1941438
hg1841438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5206422
SamplesNA18507
Known GenesCHST5, TMEM231
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)esv2647265
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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