A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6923564



Internal ID9686166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:52857870..52858104hg38UCSC Ensembl
OuterchrX:52886899..52887133hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740172, esv2740170, esv2740171
Supporting Variants
SamplesSSM018
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)essv6923564
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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