A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740433



Internal ID3290929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:120463720..120463972hg38UCSC Ensembl
OuterchrX:119597575..119597827hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6701644, essv6826942, essv6834262
SamplesSSM082, SSM039, SSM080
Known GenesLAMP2
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)esv2740433
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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