A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2427720



Internal ID1458260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:32968412..32971497hg38UCSC Ensembl
OuterchrX:32986529..32989614hg19UCSC Ensembl
OuterchrX:32896450..32899535hg18UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg383086
hg193086
hg183086
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5172610
SamplesNA18507
Known GenesDMD
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)esv2427720
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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