A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5329884



Internal ID8421619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:35304836..35306850hg38UCSC Ensembl
OuterchrX:35322953..35324967hg19UCSC Ensembl
OuterchrX:35232874..35234888hg18UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg382015
hg192015
hg182015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2514359
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)essv5329884
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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