A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5359125



Internal ID8104174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179637815..179639270hg38UCSC Ensembl
Outerchr1:179606950..179608405hg19UCSC Ensembl
Outerchr1:177873573..177875028hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381456
hg191456
hg181456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2544242
Supporting Variants
SamplesNA18507
Known GenesTDRD5
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)essv5359125
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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