A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740237



Internal ID10323873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:75379884..75379998hg38UCSC Ensembl
OuterchrX:74599719..74599833hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855990, essv6861474, essv6957882
SamplesSSM087, SSM088, SSM026
Known GenesZDHHC15
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)esv2740237
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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