A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6723756



Internal ID9788177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:47148470..47149079hg38UCSC Ensembl
OuterchrX:47007869..47008478hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38610
hg19610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740135
Supporting Variants
SamplesSSM045
Known GenesRBM10
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)essv6723756
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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