A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5389231



Internal ID8480966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:24082547..24084226hg38UCSC Ensembl
OuterchrX:24100664..24102343hg19UCSC Ensembl
OuterchrX:24010585..24012264hg18UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg381680
hg191680
hg181680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2444292
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)essv5389231
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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