A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6712301



Internal ID10124844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1402404..1402960hg38UCSC Ensembl
OuterchrX:1521297..1521853hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739692, esv2739688, esv2739698, esv2739690, esv2739699, esv2739686
Supporting Variants
SamplesSSM042
Known GenesASMTL-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)essv6712301
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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