A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739657



Internal ID10323293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1293612..1294330hg38UCSC Ensembl
OuterchrX:1412505..1413223hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38719
hg19719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975611, essv6964480, essv6830612, essv6935220, essv6778691, essv6767892, essv6859076, essv6731999, essv6799232, essv6841694, essv6746255, essv6760373, essv6671811, essv6881763, essv6957782, essv6734659, essv6861417, essv6904157, essv6705473
SamplesSSM027, SSM011, SSM064, SSM013, SSM009, SSM088, SSM084, SSM021, SSM061, SSM029, SSM026, SSM094, SSM031, SSM067, SSM081, SSM040, SSM007, SSM055, SSM049
Known GenesCSF2RA, MIR3690, MIR3690-2
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)esv2739657
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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