A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866300



Internal ID12971678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:123963617..123963632hg38UCSC Ensembl
InnerchrX:123963619..123963630hg38UCSC Ensembl
OuterchrX:123963615..123963634hg38UCSC Ensembl
chrX:123097467..123097482hg19UCSC Ensembl
InnerchrX:123097469..123097480hg19UCSC Ensembl
OuterchrX:123097465..123097484hg19UCSC Ensembl
chrX:122925148..122925163hg18UCSC Ensembl
InnerchrX:122925150..122925161hg18UCSC Ensembl
OuterchrX:122925146..122925165hg18UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3427436
Supporting Variants
SamplesNA12005
Known GenesSTAG2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866300
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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