A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6919404



Internal ID10029741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:75379744..75380141hg38UCSC Ensembl
OuterchrX:74599579..74599976hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740234, esv2740235
Supporting Variants
SamplesSSM017
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)essv6919404
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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