A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6957868



Internal ID9719767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:54914046..54914118hg38UCSC Ensembl
OuterchrX:54940479..54940551hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740177, esv2740175, esv2740178
Supporting Variants
SamplesSSM026
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6957868
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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