A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558484



Internal ID18759560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:1408310..1410276hg38UCSC Ensembl
OuterchrX:1408083..1410426hg38UCSC Ensembl
InnerchrX:1527203..1529169hg19UCSC Ensembl
OuterchrX:1526976..1529319hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg382344
hg192344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757231
Samples
Known GenesASMTL, ASMTL-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558484
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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