A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5196795



Internal ID8288530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:40645496..40647070hg38UCSC Ensembl
OuterchrX:40504748..40506322hg19UCSC Ensembl
OuterchrX:40389692..40391266hg18UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg381575
hg191575
hg181575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2550325
Supporting Variants
SamplesNA18507
Known GenesCXorf38
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)essv5196795
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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