A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5300645



Internal ID8045694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:40601665..40603428hg38UCSC Ensembl
OuterchrX:40460917..40462680hg19UCSC Ensembl
OuterchrX:40345861..40347624hg18UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg381764
hg191764
hg181764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2584867
Supporting Variants
SamplesNA18507
Known GenesATP6AP2
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)essv5300645
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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