A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5311800



Internal ID8056849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:98687247..98688623hg38UCSC Ensembl
Outerchr10:100447004..100448380hg19UCSC Ensembl
Outerchr10:100436994..100438370hg18UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg381377
hg191377
hg181377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2482496
Supporting Variants
SamplesNA18507
Known GenesHPSE2
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)essv5311800
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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