A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5322324



Internal ID8414059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:41072545..41074423hg38UCSC Ensembl
OuterchrX:40931798..40933676hg19UCSC Ensembl
OuterchrX:40816742..40818620hg18UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg381879
hg191879
hg181879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2512599
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)essv5322324
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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