A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6751988



Internal ID9813219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:55146147..55159108hg38UCSC Ensembl
OuterchrX:55172580..55185541hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3812962
hg1912962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740182, esv2740181, esv2740175
Supporting Variants
SamplesSSM057
Known GenesFAM104B
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)essv6751988
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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