A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6765197



Internal ID9654648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:26193859..26194591hg38UCSC Ensembl
OuterchrX:26211976..26212708hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg38733
hg19733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740021, esv2740022
Supporting Variants
SamplesSSM008
Known GenesMAGEB6
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)essv6765197
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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