A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5305612



Internal ID8397347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:2336571..2338196hg38UCSC Ensembl
Outerchr10:2378765..2380390hg19UCSC Ensembl
Outerchr10:2368765..2370390hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381626
hg191626
hg181626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2494507
Supporting Variants
SamplesNA18507
Known Genes
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)essv5305612
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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