A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558496



Internal ID18759572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:1603678..1604012hg38UCSC Ensembl
OuterchrX:1603597..1604080hg38UCSC Ensembl
InnerchrX:1722571..1722905hg19UCSC Ensembl
OuterchrX:1722490..1722973hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv500e215
Supporting Variantsessv9757243
Samples
Known GenesASMT
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558496
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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