A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740437



Internal ID10324073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:121199168..121199326hg38UCSC Ensembl
OuterchrX:120333022..120333180hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6765521, essv6944060, essv6923581
SamplesSSM008, SSM023, SSM018
Known Genes
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)esv2740437
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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