A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6957852



Internal ID10066438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:34359085..34359288hg38UCSC Ensembl
OuterchrX:34377202..34377405hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740080, esv2740081
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)essv6957852
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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