A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5188918



Internal ID8280653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:120466570..120470023hg38UCSC Ensembl
Outerchr10:122226082..122229535hg19UCSC Ensembl
Outerchr10:122216072..122219525hg18UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg383454
hg193454
hg183454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2546781
Supporting Variants
SamplesNA18507
Known GenesPPAPDC1A
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)essv5188918
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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