A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739907



Internal ID10323543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3759036..3759617hg38UCSC Ensembl
OuterchrX:3677077..3677658hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38582
hg19582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6782720, essv6855922, essv6762917, essv6939515, essv6751955, essv6757702, essv6775018, essv6957816
SamplesSSM059, SSM087, SSM057, SSM062, SSM026, SSM066, SSM068, SSM022
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)esv2739907
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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