A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739719



Internal ID10323355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1450953..1451429hg38UCSC Ensembl
OuterchrX:1569846..1570322hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38477
hg19477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6952391, essv6943974, essv6930958, essv6923520, essv6701568, essv6791011, essv6948293, essv6694703
SamplesSSM024, SSM039, SSM023, SSM018, SSM020, SSM037, SSM070, SSM025
Known GenesASMTL
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)esv2739719
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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