A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2477107



Internal ID8540665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:139074921..139076317hg38UCSC Ensembl
OuterchrX:138157083..138158479hg19UCSC Ensembl
OuterchrX:137984749..137986145hg18UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg381397
hg191397
hg181397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5372767
SamplesNA18507
Known GenesFGF13
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)esv2477107
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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