A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740575



Internal ID10324211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:147258590..147259618hg38UCSC Ensembl
OuterchrX:146340108..146341136hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg381029
hg191029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6775077, essv6740451, essv6873181, essv6892776, essv6919426, essv6829954, essv6771359, essv6927314, essv6904074, essv6765632
SamplesSSM008, SSM065, SSM002, SSM017, SSM019, SSM066, SSM010, SSM091, SSM052, SSM012
Known GenesMIR509-1, MIR509-2, MIR509-3
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)esv2740575
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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