A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5170458



Internal ID8262193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:107949401..107950198hg38UCSC Ensembl
OuterchrX:107192631..107193428hg19UCSC Ensembl
OuterchrX:107079287..107080084hg18UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38480
hg19480
hg18480
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2582607
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)essv5170458
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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