A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740365



Internal ID10324001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:103523847..103554316hg38UCSC Ensembl
OuterchrX:102778775..102809244hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg3830470
hg1930470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6829765, essv6931024, essv6818814, essv6799855, essv6873166, essv6859732, essv6719967, essv6935281, essv6841747, essv6765334
SamplesSSM011, SSM009, SSM084, SSM021, SSM044, SSM020, SSM078, SSM010, SSM091, SSM063
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)esv2740365
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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