A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5306844



Internal ID8398579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:22653553..22655205hg38UCSC Ensembl
OuterchrX:22671670..22673322hg19UCSC Ensembl
OuterchrX:22581591..22583243hg18UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg381653
hg191653
hg181653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2492437
Supporting Variants
SamplesNA18507
Known GenesLOC100873065
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)essv5306844
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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