A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740114



Internal ID9974456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:44531127..44531557hg38UCSC Ensembl
OuterchrX:44390373..44390803hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38431
hg19431
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6671874, essv6952430
SamplesSSM031, SSM025
Known GenesFUNDC1
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)esv2740114
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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