A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740397



Internal ID10324033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:113931150..113931616hg38UCSC Ensembl
OuterchrX:113174426..113174908hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38467
hg19483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1321e201
Supporting Variantsessv6791085, essv6975753, essv6690957, essv6826941, essv6935284, essv6849988
SamplesSSM036, SSM021, SSM029, SSM086, SSM080, SSM070
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)esv2740397
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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