A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739989



Internal ID10323625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:16523114..16524320hg38UCSC Ensembl
OuterchrX:16541237..16542443hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381207
hg191207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6706665, essv6734681, essv6723736, essv6964527, essv6805825, essv6855939, essv6757707, essv6818778
SamplesSSM059, SSM027, SSM045, SSM087, SSM074, SSM006, SSM078, SSM049
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)esv2739989
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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