A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6897091



Internal ID10291300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1404509..1405537hg38UCSC Ensembl
OuterchrX:1523402..1524430hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381029
hg191029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739692, esv2739688, esv2739703, esv2739690, esv2739686
Supporting Variants
SamplesSSM099
Known GenesASMTL, ASMTL-AS1
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)essv6897091
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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