A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740233



Internal ID10323869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:75335153..75335330hg38UCSC Ensembl
OuterchrX:74554988..74555165hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6694748, essv6799424, essv6791062
SamplesSSM072, SSM037, 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)esv2740233
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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