A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6818800



Internal ID9871839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:52862945..55652533hg38UCSC Ensembl
OuterchrX:52891974..55678966hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg382789589
hg192786993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740175
Supporting Variants
SamplesSSM078
Known GenesALAS2, APEX2, FAM104B, FAM120C, FAM156A, FAM156B, FGD1, FOXR2, GNL3L, GPR173, HSD17B10, HUWE1, IQSEC2, ITIH6, KDM5C, MAGED2, MAGEH1, MIR4536-1, MIR6857, MIR6894, MIR6895, MIR98, MIRLET7F2, MTRNR2L10, PAGE2, PAGE2B, PAGE3, PAGE5, PFKFB1, PHF8, RIBC1, SMC1A, SNORA11, TRO, TSPYL2, TSR2, USP51, WNK3, XAGE3
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)essv6818800
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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