A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6799266



Internal ID10005813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1402248..1403089hg38UCSC Ensembl
OuterchrX:1521141..1521982hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38842
hg19842
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739692, esv2739688, esv2739698, esv2739690, esv2739686
Supporting Variants
SamplesSSM009
Known GenesASMTL-AS1
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)essv6799266
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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