A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6734686



Internal ID9799085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:47148232..47149133hg38UCSC Ensembl
OuterchrX:47007631..47008532hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38902
hg19902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740135
Supporting Variants
SamplesSSM049
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)essv6734686
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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