A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2440853



Internal ID8157725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:130405678..130407159hg38UCSC Ensembl
OuterchrX:129539652..129541133hg19UCSC Ensembl
OuterchrX:129367333..129368814hg18UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381482
hg191482
hg181482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5370823
SamplesNA18507
Known GenesRBMX2
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)esv2440853
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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