A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5162365



Internal ID8254100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:144761193..144762950hg38UCSC Ensembl
OuterchrX:143842714..143844471hg19UCSC Ensembl
OuterchrX:143650411..143652168hg18UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg381758
hg191758
hg181758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2473331
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)essv5162365
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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