A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739990



Internal ID10323626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:16523775..16523932hg38UCSC Ensembl
OuterchrX:16541898..16542055hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6723736, essv6964527, essv6805825, essv6855939, essv6818778
SamplesSSM027, SSM045, SSM087, SSM074, SSM078
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)esv2739990
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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