A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740427



Internal ID9974770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:119470076..119470389hg38UCSC Ensembl
OuterchrX:118604039..118604352hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6873171, essv6897130, essv6919414
SamplesSSM017, SSM091, SSM099
Known GenesSLC25A5
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)esv2740427
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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