A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2570484



Internal ID8634042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:113633282..113634583hg38UCSC Ensembl
OuterchrX:112876569..112877870hg19UCSC Ensembl
OuterchrX:112763229..112764199hg18UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5335774
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)esv2570484
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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