A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6757724



Internal ID9819015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:48178016..48275136hg38UCSC Ensembl
OuterchrX:48037452..48134571hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3897121
hg1997120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740145
Supporting Variants
SamplesSSM059
Known GenesSSX1, SSX5
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)essv6757724
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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