A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739765



Internal ID10323401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1641035..1641331hg38UCSC Ensembl
OuterchrX:1759928..1760224hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6771285, essv6837894, essv6795155, essv6834211, essv6930961, essv6715991, essv6891865, essv6897092, essv6911788, essv6690895, essv6964494, essv6677026, essv6814745, essv6923526, essv6952394
SamplesSSM036, SSM083, SSM071, SSM027, SSM065, SSM018, SSM032, SSM082, SSM020, SSM015, SSM077, SSM025, SSM099, SSM043, SSM012
Known GenesASMT
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)esv2739765
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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