A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740268



Internal ID10323904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:85087907..85088704hg38UCSC Ensembl
OuterchrX:84342913..84343710hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38798
hg19798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6791069, essv6814779, essv6799766, essv6727622, essv6778740, essv6723769, essv6751996, essv6975728, essv6870182, essv6684437, essv6671902, essv6795199, essv6708870, essv6687694, essv6859620, essv6716045, essv6911854
SamplesSSM071, SSM045, SSM046, SSM011, SSM009, SSM041, SSM057, SSM090, SSM029, SSM035, SSM031, SSM067, SSM015, SSM077, SSM070, SSM034, SSM043
Known GenesAPOOL
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)esv2740268
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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