A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559371



Internal ID18413761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:136217044..136219803hg38UCSC Ensembl
OuterchrX:136217015..136220006hg38UCSC Ensembl
InnerchrX:135299203..135301962hg19UCSC Ensembl
OuterchrX:135299174..135302165hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg382992
hg192992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758118
Samples
Known GenesMAP7D3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559371
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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