A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739996



Internal ID9974338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:17502483..17502800hg38UCSC Ensembl
OuterchrX:17520606..17520923hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6952413, essv6671860, essv6818779, essv6964530, essv6677042, essv6811688, essv6708841, essv6837918, essv6855941, essv6723738, essv6826907, essv6957834, essv6975671, essv6849901, essv6900081, essv6866191, essv6908090
SamplesSSM027, SSM086, SSM078, SSM089, SSM031, SSM025, SSM032, SSM045, SSM083, SSM041, SSM100, SSM029, SSM087, SSM026, SSM014, SSM076, SSM080
Known GenesNHS
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)esv2739996
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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