A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740203



Internal ID10323839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:68427877..68429447hg38UCSC Ensembl
OuterchrX:67647719..67649289hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg381571
hg191571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6786956, essv6932862
SamplesSSM069, SSM003
Known GenesOPHN1
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)esv2740203
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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