A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1139290



Internal ID12302413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:85088817..85088866hg38UCSC Ensembl
chrX:84343823..84343872hg19UCSC Ensembl
chrX:84230479..84230528hg18UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3710530
SamplesHuRef
Known GenesAPOOL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1139290
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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