A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5233126



Internal ID7978175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:51672516..51673768hg38UCSC Ensembl
Outerchr8:52585076..52586328hg19UCSC Ensembl
Outerchr8:52747629..52748881hg18UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg381253
hg191253
hg181253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2528133
Supporting Variants
SamplesNA18507
Known GenesPXDNL
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)essv5233126
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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