A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6805806



Internal ID10209182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1368718..1426131hg38UCSC Ensembl
OuterchrX:1487611..1545024hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3857414
hg1957414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739692, esv2739688, esv2739690, esv2739686
Supporting Variants
SamplesSSM074
Known GenesASMTL, ASMTL-AS1, IL3RA, SLC25A6
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)essv6805806
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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