A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740280



Internal ID10323916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:86623745..86624064hg38UCSC Ensembl
OuterchrX:85878748..85879067hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6811704, essv6878979, essv6687695, essv6908126, essv6822912, essv6805840, essv6727625, essv6719947, essv6887417
SamplesSSM046, SSM079, SSM093, SSM074, SSM096, SSM035, SSM044, SSM014, SSM076
Known GenesDACH2
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)esv2740280
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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