A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6667838



Internal ID9738177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:52858810..52860927hg38UCSC Ensembl
OuterchrX:52887839..52889956hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg382118
hg192118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740174, esv2740170
Supporting Variants
SamplesSSM030
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)essv6667838
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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